hypertrophic cardiomyopathy

Summary

Summary: A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).

Top Publications

  1. ncbi Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy
    Rory O'Hanlon
    Department of Cardiovascular Magnetic Resonance, Royal Brompton and Harefield NHS Foundation Trust, London, UK
    J Am Coll Cardiol 56:867-74. 2010
  2. doi Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
    Iacopo Olivotto
    Regional Referral Center for Myocardial Diseases, Azienda Ospedaliera Universitaria Careggi and Università degli Studi, Florence, Italy
    Mayo Clin Proc 83:630-8. 2008
  3. ncbi Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    H Niimura
    Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 338:1248-57. 1998
  4. ncbi Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
    F Yanaga
    Department of Clinical Pharmacology, Faculty of Medicine, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    J Biol Chem 274:8806-12. 1999
  5. pmc Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    Circ Cardiovasc Genet 2:314-21. 2009
  6. ncbi The histologic basis of late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy
    James C C Moon
    Centre for Advanced Magnetic Resonance in Cardiology CAMRIC, London, United Kingdom
    J Am Coll Cardiol 43:2260-4. 2004
  7. pmc Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β
    Polakit Teekakirikul
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 120:3520-9. 2010
  8. ncbi Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy
    Oliver Bruder
    Department of Cardiology and Angiology, Elisabeth Hospital, Essen, Germany
    J Am Coll Cardiol 56:875-87. 2010
  9. ncbi Hypertrophic cardiomyopathy: an important global disease
    Barry J Maron
    Am J Med 116:63-5. 2004
  10. doi Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance
    A Selcuk Adabag
    Division of Cardiology, Veterans Affairs Medical Center, Minneapolis, Minnesota 55417, USA
    J Am Coll Cardiol 51:1369-74. 2008

Detail Information

Publications292 found, 100 shown here

  1. ncbi Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy
    Rory O'Hanlon
    Department of Cardiovascular Magnetic Resonance, Royal Brompton and Harefield NHS Foundation Trust, London, UK
    J Am Coll Cardiol 56:867-74. 2010
    We investigated the significance of fibrosis detected by late gadolinium enhancement cardiovascular magnetic resonance for the prediction of major clinical events in hypertrophic cardiomyopathy (HCM).
  2. doi Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy
    Iacopo Olivotto
    Regional Referral Center for Myocardial Diseases, Azienda Ospedaliera Universitaria Careggi and Università degli Studi, Florence, Italy
    Mayo Clin Proc 83:630-8. 2008
    To determine the influence of a positive genetic test for hypertrophic cardiomyopathy (HCM) on clinical outcome.
  3. ncbi Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy
    H Niimura
    Howard Hughes Medical Institute, Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    N Engl J Med 338:1248-57. 1998
    ..the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. The spectrum of disease-causing mutations and the associated clinical features of these gene defects ..
  4. ncbi Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy
    F Yanaga
    Department of Clinical Pharmacology, Faculty of Medicine, Kyushu University, 3 1 1 Maidashi, Higashi ku, Fukuoka 812 8582, Japan
    J Biol Chem 274:8806-12. 1999
    ..troponin T, I, C and five troponin T mutants (I79N, R92Q, F110I, E244D, and R278C) causing familial hypertrophic cardiomyopathy were expressed in Escherichia coli, and then were purified and incorporated into rabbit cardiac ..
  5. pmc Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
    Circ Cardiovasc Genet 2:314-21. 2009
    Genetic testing identifies sarcomere mutation carriers (G+) before clinical diagnosis of hypertrophic cardiomyopathy (HCM), allowing characterization of initial disease manifestations...
  6. ncbi The histologic basis of late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy
    James C C Moon
    Centre for Advanced Magnetic Resonance in Cardiology CAMRIC, London, United Kingdom
    J Am Coll Cardiol 43:2260-4. 2004
    We sought to identify the histologic basis of myocardial late gadolinium enhancement cardiovascular magnetic resonance (CMR) in hypertrophic cardiomyopathy (HCM).
  7. pmc Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-β
    Polakit Teekakirikul
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Clin Invest 120:3520-9. 2010
    Mutations in sarcomere protein genes can cause hypertrophic cardiomyopathy (HCM), a disorder characterized by myocyte enlargement, fibrosis, and impaired ventricular relaxation...
  8. ncbi Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy
    Oliver Bruder
    Department of Cardiology and Angiology, Elisabeth Hospital, Essen, Germany
    J Am Coll Cardiol 56:875-87. 2010
    We sought to establish the prognostic value of a comprehensive cardiovascular magnetic resonance (CMR) examination in risk stratification of hypertrophic cardiomyopathy (HCM) patients.
  9. ncbi Hypertrophic cardiomyopathy: an important global disease
    Barry J Maron
    Am J Med 116:63-5. 2004
  10. doi Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonance
    A Selcuk Adabag
    Division of Cardiology, Veterans Affairs Medical Center, Minneapolis, Minnesota 55417, USA
    J Am Coll Cardiol 51:1369-74. 2008
    Our aim was to determine whether myocardial fibrosis, detected by cardiovascular magnetic resonance (CMR), represents an arrhythmogenic substrate in hypertrophic cardiomyopathy (HCM).
  11. pmc Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
    N Engl J Med 363:552-63. 2010
    Myocardial fibrosis is a hallmark of hypertrophic cardiomyopathy and a proposed substrate for arrhythmias and heart failure. In animal models, profibrotic genetic pathways are activated early, before hypertrophic remodeling...
  12. pmc Enhanced transmural fiber rotation and connexin 43 heterogeneity are associated with an increased upper limit of vulnerability in a transgenic rabbit model of human hypertrophic cardiomyopathy
    Crystal M Ripplinger
    Department of Biomedical Engineering, Washington University, St Louis, MO 63130, USA
    Circ Res 101:1049-57. 2007
    Human hypertrophic cardiomyopathy, characterized by cardiac hypertrophy and myocyte disarray, is the most common cause of sudden cardiac death in the young. Hypertrophic cardiomyopathy is often caused by mutations in sarcomeric genes...
  13. doi Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance
    Martin S Maron
    Hypertrophic Cardiomyopathy Center, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts 02111, USA
    J Am Coll Cardiol 54:220-8. 2009
    ..characterize the pattern and distribution of left ventricular (LV) hypertrophy by cardiovascular magnetic resonance (CMR) to more precisely define phenotypic expression and its clinical implications in hypertrophic cardiomyopathy (HCM).
  14. ncbi Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere
    L Thierfelder
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    Cell 77:701-12. 1994
    ..demonstrate that missense mutations (Asp175Asn; Glu180Gly) in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC) linked to chromosome 15q2...
  15. ncbi Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy
    H Watkins
    Howard Hughes Medical Institute, Boston, MA
    N Engl J Med 332:1058-64. 1995
    Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for beta cardiac myosin heavy chain, alpha-tropomyosin, or cardiac troponin T...
  16. ncbi Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle
    K Poetter
    Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
    Nat Genet 13:63-9. 1996
    ....
  17. pmc Molecular genetics and pathogenesis of hypertrophic cardiomyopathy
    A J Marian
    Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, TX, USA
    Minerva Med 92:435-51. 2001
    Advances in molecular genetics of hypertrophic cardiomyopathy (HCM) have led to identification of mutations in 11 genes coding for sarcomeric proteins...
  18. doi Clinical profile and significance of delayed enhancement in hypertrophic cardiomyopathy
    Martin S Maron
    Hypertrophic Cardiomyopathy Center, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts 02111, USA
    Circ Heart Fail 1:184-91. 2008
    Contrast-enhanced cardiovascular magnetic resonance with delayed enhancement (DE) can provide in vivo assessment of myocardial fibrosis. However, the clinical significance of DE in hypertrophic cardiomyopathy (HCM) remains unresolved.
  19. pmc Hypertrophic cardiomyopathy
    Carolyn Y Ho
    Cardiovascular Division, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
    Heart Fail Clin 6:141-59. 2010
    Important insights into the molecular basis of hypertrophic cardiomyopathy and related diseases have been gained by studying families with inherited cardiac hypertrophy...
  20. ncbi Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy
    Steve R Ommen
    Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 46:470-6. 2005
    This study sought to determine the impact of surgical myectomy on long-term survival in hypertrophic cardiomyopathy (HCM).
  21. ncbi Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy
    Jenifer G Crilley
    MRC Biochemical and Clinical Magnetic Resonance Unit, University of Oxford, John Radcliffe Hospital, Headley Way, Oxford, United Kingdom
    J Am Coll Cardiol 41:1776-82. 2003
    We investigated cardiac energetics in subjects with mutations in three different familial hypertrophic cardiomyopathy (HCM) disease genes, some of whom were nonpenetrant carriers without hypertrophy, using phosphorus-31 magnetic ..
  22. doi Cardiac magnetic resonance detection of myocardial scarring in hypertrophic cardiomyopathy: correlation with histopathology and prevalence of ventricular tachycardia
    Deborah H Kwon
    Heart and Vascular Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Am Coll Cardiol 54:242-9. 2009
    In hypertrophic cardiomyopathy (HCM) patients undergoing surgical myectomy, we sought to determine the association between pre-operative cardiac magnetic resonance (CMR) findings, small intramural coronary arteriole dysplasia (SICAD) on ..
  23. pmc Delayed hyperenhancement in magnetic resonance imaging of left ventricular hypertrophy caused by aortic stenosis and hypertrophic cardiomyopathy: visualisation of focal fibrosis
    K Debl
    Klinik und Poliklinik fur Innere Medizin II, Klinikum der Universitat, Regensburg, Germany
    Heart 92:1447-51. 2006
    ..magnetic resonance imaging (MRI; delayed hyperenhancement) in severe left ventricular (LV) hypertrophy in patients with pressure overload caused by aortic stenosis (AS) and with genetically determined hypertrophic cardiomyopathy (HCM).
  24. doi Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathy
    Takuro Arimura
    Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
    J Am Coll Cardiol 54:334-42. 2009
    The purpose of this study was to explore a novel disease gene for hypertrophic cardiomyopathy (HCM) and to evaluate functional alterations caused by mutations.
  25. ncbi Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments
    Paul Robinson
    Department of Cardiovascular Medicine, University of Oxford, United Kingdom
    Circ Res 101:1266-73. 2007
    Dilated cardiomyopathy and hypertrophic cardiomyopathy (HCM) can be caused by mutations in thin filament regulatory proteins of the contractile apparatus...
  26. ncbi Utility of cardiac magnetic resonance imaging in the diagnosis of hypertrophic cardiomyopathy
    Carsten Rickers
    Department of Radiology, Fairview University Medical Center, Minneapolis, MN, USA
    Circulation 112:855-61. 2005
    Two-dimensional echocardiography is currently the standard test for the clinical diagnosis of hypertrophic cardiomyopathy (HCM)...
  27. ncbi Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathy
    Mónica G Castro
    Genética Molecular Instituto de Estudios Nefrológicos, Hospital Central de Asturias Maternidad 33006, Oviedo, Spain
    Int J Cardiol 112:202-6. 2006
    Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission...
  28. ncbi Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy
    J Erdmann
    Department of Internal Medicine II Cardiology, University of Regensburg, Regensburg, Germany
    Clin Genet 64:339-49. 2003
    Defects in nine sarcomeric protein genes are known to cause hypertrophic cardiomyopathy (HCM). Mutation types and frequencies in large cohorts of consecutive and unrelated patients have not yet been determined...
  29. ncbi Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy
    A Kimura
    Department of Tissue Physiology, Tokyo Medical and Dental University, Japan
    Nat Genet 16:379-82. 1997
    b>Hypertrophic cardiomyopathy (HCM), the most common cause of sudden death in the young, is an autosomal dominant disease characterized by ventricular hypertrophy accompanied by myofibrillar disarrays...
  30. ncbi Familial hypertrophic cardiomyopathy: from mutations to functional defects
    G Bonne
    From the INSERM Unit 153, the Service de Biochimie B, and the IFR de Physiologie et Génétique Cardiovasculaire, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Circ Res 83:580-93. 1998
    b>Hypertrophic cardiomyopathy is characterized by left and/or right ventricular hypertrophy, which is usually asymmetric and involves the interventricular septum...
  31. ncbi Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics
    Ronny Alcalai
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cardiovasc Electrophysiol 19:104-10. 2008
    b>Hypertrophic cardiomyopathy (HCM) is a common inherited cardiac disorder that characterized by marked thickening of the left ventricular wall that occurs in the absence of increased external load...
  32. pmc Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferation
    Risto Kerkela
    Center for Translational Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA
    J Clin Invest 118:3609-18. 2008
    ..Although controversy over the teratogenic effects of lithium remains, our studies suggest that caution should be exercised in the use of newer, more potent drugs targeting GSK-3 in women of childbearing age...
  33. ncbi Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly
    Hideshi Niimura
    Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
    Circulation 105:446-51. 2002
    b>Hypertrophic cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually recognized by early adulthood...
  34. ncbi Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations
    Francesca Girolami
    Unit for Genetic Diagnosis, Careggi University Hospital, Florence, Italy
    J Am Coll Cardiol 55:1444-53. 2010
    The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort.
  35. ncbi Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families
    Juan R Gimeno
    Servicio de Cardiologia, Hospital Virgen de la Arrixaca, El Palmar, Murcia, Espana
    Rev Esp Cardiol 62:1473-7. 2009
    ..We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3...
  36. ncbi Doppler tissue imaging: regional myocardial function in hypertrophic cardiomyopathy and in athlete's heart
    Nuno Cardim
    Department of Cardiology, Hospital Pulido Valente, Lisbon, Portugal
    J Am Soc Echocardiogr 16:223-32. 2003
    The distinction between hypertrophic cardiomyopathy (HCM) and the athlete's (AT) heart is an important clinical problem, and the analysis of regional myocardial function with Doppler tissue imaging may be useful in the differential ..
  37. ncbi A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance
    J A Moolman
    Department of Experimental Cardiology, Max Planck Institute for Physiological and Clinical Research, Bad Nauheim, Germany
    Circulation 101:1396-402. 2000
    b>Hypertrophic cardiomyopathy is a myocardial disorder resulting from inherited sarcomeric dysfunction...
  38. ncbi Coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathy
    Franco Cecchi
    Regional Referral Center for Myocardial Diseases, Azienda Ospedaliera Careggi, Florence, Italy
    N Engl J Med 349:1027-35. 2003
    ..increase in myocardial blood flow in response to dipyridamole infusion, is a recognized feature of hypertrophic cardiomyopathy. Its long-term effect on the prognosis is unknown...
  39. ncbi Clinical course of hypertrophic cardiomyopathy with survival to advanced age
    Barry J Maron
    Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, 920 E 28th Street, Suite 60, Minneapolis, MN 55407, USA
    J Am Coll Cardiol 42:882-8. 2003
    This study was designed to clarify and resolve the clinical profile of older patients with hypertrophic cardiomyopathy (HCM).
  40. pmc Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography
    J C C Moon
    Centre for Advanced Magnetic Resonance in Cardiology, Royal Brompton Hospital, London, UK
    Heart 90:645-9. 2004
    ..To investigate the role of cardiovascular magnetic resonance (CMR) in a series of patients with ECG repolarisation changes and normal echocardiography...
  41. pmc Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy
    W D Gao
    Section of Molecular and Cellular Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
    J Clin Invest 103:661-6. 1999
    Excitation-contraction coupling in cardiac muscle of familial hypertrophic cardiomyopathy (FHC) remains poorly understood, despite the fact that the genetic alterations are well defined...
  42. ncbi Impact of intraoperative transesophageal echocardiography in the surgical management of hypertrophic cardiomyopathy
    Steve R Ommen
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
    Am J Cardiol 90:1022-4. 2002
  43. pmc Simvastatin induces regression of cardiac hypertrophy and fibrosis and improves cardiac function in a transgenic rabbit model of human hypertrophic cardiomyopathy
    R Patel
    Section of Cardiology, Department of Medicine, The DeBakey Heart Center, The Methodist Hospital and Baylor College of Medicine, Houston, Texas, USA
    Circulation 104:317-24. 2001
    BACKGROUND: Hypertrophic cardiomyopathy is a genetic disease characterized by cardiac hypertrophy, myocyte disarray, interstitial fibrosis, and left ventricular (LV) dysfunction...
  44. ncbi Hypertrophic cardiomyopathy
    Perry Elliott
    University College London, London, UK
    Lancet 363:1881-91. 2004
    b>Hypertrophic cardiomyopathy is a common genetically transmitted disease, defined clinically by the presence of unexplained left ventricular hypertrophy...
  45. pmc Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypes
    D S Lim
    Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
    J Am Coll Cardiol 38:1175-80. 2001
    The goal of this study was to identify genes upregulated in the heart in human patients with hypertrophic cardiomyopathy (HCM).
  46. ncbi Assessment of permanent dual-chamber pacing as a treatment for drug-refractory symptomatic patients with obstructive hypertrophic cardiomyopathy. A randomized, double-blind, crossover study (M-PATHY)
    B J Maron
    Minneapolis Heart Institute Foundation, Minneapolis, MN 55407, USA
    Circulation 99:2927-33. 1999
    Dual-chamber pacing (DDD) has been proposed as a treatment alternative to surgery for severely symptomatic patients with obstructive hypertrophic cardiomyopathy (HCM), based largely on uncontrolled studies.
  47. ncbi Ventricular arrhythmia following alcohol septal ablation for obstructive hypertrophic cardiomyopathy
    Peter A Noseworthy
    Cardiology Division, Massachusetts General Hospital, Boston, MA, USA
    Am J Cardiol 104:128-32. 2009
    ..cardiac death (SCD) and ventricular arrhythmia after alcohol septal ablation (ASA) for obstructive hypertrophic cardiomyopathy. ASA is a nonsurgical alternative to septal myectomy for treatment of symptomatic, drug-refractory, ..
  48. doi Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy
    J Martijn Bos
    Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
    J Am Coll Cardiol 54:201-11. 2009
    Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively...
  49. doi Abnormalities in T2-weighted cardiovascular magnetic resonance images of hypertrophic cardiomyopathy: regional distribution and relation to late gadolinium enhancement and severity of hypertrophy
    Hassan Abdel-Aty
    Department of Cardiac Sciences, Foothills Medical Centre, University of Calgary, 1403 29th Street NW, Calgary, Alberta, Canada
    J Magn Reson Imaging 28:242-5. 2008
    To explore if focal T2 abnormalities accompany late gadolinium enhancement (LGE) lesions in hypertrophic cardiomyopathy (HCM).
  50. ncbi Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers
    Michelle Michels
    Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, The Netherlands
    Eur Heart J 30:2593-8. 2009
    To investigate the outcome of cardiac evaluation and the risk stratification for sudden cardiac death (SCD) in asymptomatic hypertrophic cardiomyopathy (HCM) mutation carriers.
  51. pmc Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy
    Maria Isabel Rodriguez-Garcia
    Hospital Universitario de A Coruña Servicio Galego de Saúde SERGAS, Instituto de Ciencias de la Salud, A Coruna, 15006, Spain
    BMC Med Genet 11:67. 2010
    MyBPC3 mutations are amongst the most frequent causes of hypertrophic cardiomyopathy, however, its prevalence varies between populations. They have been associated with mild and late onset disease expression...
  52. ncbi The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population
    P Jääskeläinen
    Department of Medicine, University of Kuopio, Finland
    J Am Coll Cardiol 32:1709-16. 1998
    The aim of the study was to screen 36 unrelated patients with hypertrophic cardiomyopathy (HCM; 16 familial and 20 sporadic cases) from a genetically homogeneous area in eastern Finland for variants in the cardiac beta-myosin heavy chain ..
  53. pmc Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy
    Adam J Saltzman
    Department of Medicine, Columbia University, New York, NY, USA
    Circ Res 106:1549-52. 2010
    The myosin-binding protein C isoform 3 (MYBPC3) variant Arg502Trp has been identified in multiple hypertrophic cardiomyopathy (HCM) cases, but compelling evidence to support or refute the pathogenicity of this variant is lacking.
  54. pmc Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy
    I Rayment
    Institute for Enzyme Research, Graduate School, University of Wisconsin, Madison 53705 4098, USA
    Proc Natl Acad Sci U S A 92:3864-8. 1995
    In 10-30% of hypertrophic cardiomyopathy kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene...
  55. ncbi Hypertrophic cardiomyopathy in the community: why we should care
    Franco Cecchi
    Referral Centre for Cardiomyopathies, Cardiology Department, Careggi University Hospital, Florence, Italy
    Nat Clin Pract Cardiovasc Med 2:324-5. 2005
  56. ncbi Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene
    H Kokado
    Second Department of Internal Medicine, School of Medicine, Kanazawa University, Kanazawa, Japan
    Circulation 102:663-9. 2000
    Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes that code proteins in the sarcomere...
  57. doi Left ventricular twist mechanics in patients with apical hypertrophic cardiomyopathy: assessment with 2D speckle tracking echocardiography
    S A Chang
    Department of Cardiology, Samsung Medical Center, Sungkyunkwan University, School of Medicine, Korea
    Heart 96:49-55. 2010
    ..Apical hypertrophic cardiomyopathy (ApHCM) is a unique disease with pathological LV hypertrophy at the apex...
  58. ncbi A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy
    Francesca Girolami
    Genetic Diagnostic Unit, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
    J Cardiovasc Med (Hagerstown) 7:601-7. 2006
    Mutations causing hypertrophic cardiomyopathy (HCM) have been described in nine different genes of the sarcomere...
  59. ncbi Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adults
    Yubao Zou
    Sino German Laboratory for Molecular Medicine, Beijing, China
    Am J Med 116:14-8. 2004
    To determine the prevalence of hypertrophic cardiomyopathy in China.
  60. ncbi First-pass MR imaging in the assessment of perfusion impairment in patients with hypertrophic cardiomyopathy and the Asp175Asn mutation of the alpha-tropomyosin gene
    Petri Sipola
    Dept of Clin Radiology, Kuopio Univ Hosp, Puijonlaaksontie 2, 70210 Kuopio, Finland
    Radiology 226:129-37. 2003
    ..in the evaluation of perfusion impairment in a genetically homogeneous population of patients with hypertrophic cardiomyopathy (HCM) and the Asp175Asn mutation of the alpha-tropomyosin gene and to evaluate the association between ..
  61. pmc Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathy
    Vinitha Senthil
    Department of Medicine, Baylor College of Medicine, One Baylor Plaza, 519D, Houston, TX 77030, USA
    Circ Res 97:285-92. 2005
    Cardiac hypertrophy, a major determinant of morbidity and mortality in hypertrophic cardiomyopathy (HCM), is considered a secondary phenotype and potentially preventable...
  62. ncbi Cardiovascular magnetic resonance signs of ischemia in hypertrophic cardiomyopathy
    Paola Melacini
    Department of Cardiac, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy
    Int J Cardiol 128:364-73. 2008
    Recurrent myocardial ischemia has been recognized as playing an important role in the pathophysiology of hypertrophic cardiomyopathy (HCM) and cardiovascular magnetic resonance (CMR), with or without gadolinium, is a promising method of ..
  63. ncbi Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy
    J C Moolman
    Department of Medical Physiology and Biochemistry, University of Stellenbosch, Tygerberg, Republic of South Africa
    Hum Mutat 6:197-8. 1995
  64. doi Hypertrophic cardiomyopathy
    Jeffrey A Towbin
    The Heart Center, Division of Pediatric Cardiology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
    Pacing Clin Electrophysiol 32:S23-31. 2009
    b>Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiac disorders, with a prevalence in young adults of one in 500 and is defined by its wall thickening.
  65. ncbi Yield of genetic testing in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mayo Clin Proc 80:739-44. 2005
    To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric mutation.
  66. ncbi Phenotypic diversity in hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 11:2499-506. 2002
    In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy (HCM) switched from discovering novel genes and defining disease-causing mutations to studies of mutation distribution in disease populations...
  67. doi The genetics of hypertrophic cardiomyopathy: Teare redux
    H Watkins
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 94:1264-8. 2008
  68. ncbi Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy
    Kevin M Harris
    Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, 920 E 28th St, Suite 60, Minneapolis, Minnesota 55407, USA
    Circulation 114:216-25. 2006
    End stage (ES) is a recognized part of the hypertrophic cardiomyopathy (HCM) disease spectrum. Frequency, clinical profile and course, and treatment strategies in these patients remain incompletely defined.
  69. ncbi Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy
    Ronen Rubinshtein
    Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Circ Heart Fail 3:51-8. 2010
    ..gadolinium enhancement (LGE) on contrast-enhanced magnetic resonance imaging (CE-MRI) of patients with hypertrophic cardiomyopathy (HCM) has been suggested to represent intramyocardial fibrosis and, as such, an adverse prognostic risk ..
  70. ncbi Hypertrophic cardiomyopathy: from gene defect to clinical disease
    Man Wei Chung
    Molecular Cardiology Group, Centenary Institute, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    Cell Res 13:9-20. 2003
    ..b>Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in which a genetic basis was identified and as such, has acted as ..
  71. doi Adiponectin acts as a positive indicator of left ventricular diastolic dysfunction in patients with hypertrophic cardiomyopathy
    Kazumasa Unno
    Department of Cardiology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa, Nagoya 466 8550, Japan
    Heart 96:357-61. 2010
    ..Adiponectin is an adipose-derived plasma protein that exhibits beneficial actions on the heart. Recently, it was shown that adiponectin levels were elevated in patients with systolic heart failure...
  72. ncbi Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
    Andreas Perrot
    Kardiologie am Campus Buch und Virchow Klinikum, Charité Universitätsmedizin Berlin und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstrasse 50, 13125 Berlin, Germany
    J Mol Med (Berl) 83:468-77. 2005
    b>Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy...
  73. pmc Assessment of regional systolic and diastolic dysfunction in familial hypertrophic cardiomyopathy using MR tagging
    Daniel B Ennis
    Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Magn Reson Med 50:638-42. 2003
    ..left ventricular (LV) dysfunction often significantly contribute to disabling symptoms in familial hypertrophic cardiomyopathy (FHC)...
  74. ncbi Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
    Paal Skytt Andersen
    Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark
    Hum Mutat 30:363-70. 2009
    The American Heart Association (AHA) recommends family screening for hypertrophic cardiomyopathy (HCM)...
  75. doi Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy
    Stephan Waldmüller
    Institute for Heart and Circulation Research, University of Witten Herdecke, Dortmund, Germany
    Clin Chem 54:682-7. 2008
    Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease...
  76. ncbi Sarcomeric genotyping in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Mayo Clin Proc 80:463-9. 2005
    To pool results from studies of patients with hypertrophic cardiomyopathy (HCM) to elucidate important phenotypic differences among genotypes.
  77. ncbi Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans
    Andrew P Landstrom
    Mayo Medical School, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    J Mol Cell Cardiol 42:1026-35. 2007
    ..To this end, we explored JPH2 as a novel candidate gene for the pathogenesis of hypertrophic cardiomyopathy (HCM) in humans...
  78. ncbi Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
    Cristina Chimenti
    Cardio Thoracic and Vascular Department, San Raffaele Hospital, Milan, Italy
    Circulation 110:1047-53. 2004
    ..FD) has been recognized as the cause of left ventricular hypertrophy in 6% of men with late-onset hypertrophic cardiomyopathy (HCM)...
  79. ncbi Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients
    Lorenzo Monserrat
    Service of Cardiology, Juan Canalejo Hospital, A Coruna, Spain
    J Am Coll Cardiol 42:873-9. 2003
    ..The aim of this study was to examine the characteristics of non-sustained ventricular tachycardia (NSVT) episodes during Holter monitoring and to determine their relationship to age and prognosis...
  80. ncbi Effect of biventricular pacing on left ventricular outflow tract pressure gradient in a patient with hypertrophic cardiomyopathy and normal interventricular conduction
    Baki Komsuoglu
    Department of Cardiology, Kocaeli University Medical Faculty, Kocaeli, Turkey
    J Cardiovasc Electrophysiol 17:207-9. 2006
    ..After biventricular pacing, LVOT gradient decreased to 20 mmHg. Biventricular pacing may be an alternative therapy for patients with HOCM...
  81. ncbi Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathy
    Iacopo Olivotto
    Regional Referral Center for Myocardial Diseases, Florence, Italy
    J Am Coll Cardiol 47:1043-8. 2006
    ..whether the entity of microvascular dysfunction, assessed by positron emission tomography (PET), predicts the long-term development of left ventricular (LV) remodeling and systolic dysfunction in hypertrophic cardiomyopathy (HCM).
  82. ncbi Phenotypic spectrum and clinical characteristics of apical hypertrophic cardiomyopathy: multicenter echo-Doppler study
    Eui Young Choi
    Yonsei University College of Medicine, Seoul, Republic of Korea
    Cardiology 110:53-61. 2008
    The aim of this study was to define the phenotypic spectrum of apical hypertrophic cardiomyopathy (ApHCM) and clinical characteristics pertaining to identified subtypes.
  83. ncbi Successful treatment of end-stage hypertrophic cardiomyopathy with biventricular cardiac pacing
    B Pezzulich
    Cardiological Department, St Luigi Hospital, Orbassano, Turin, Italy
    Europace 7:388-91. 2005
    The beneficial use of biventricular pacing is reported in a patient with end-stage hypertrophic cardiomyopathy, intraventricular conduction delay and echocardiographic evidence of intraventricular dyssyncrony...
  84. ncbi Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy
    Golla N Prasad
    Int J Cardiol 109:432-3. 2006
    We report a rare case of a 65 year old male with mid left ventricular cavity obstruction which is an uncommon form of hypertrophic cardiomyopathy with cytogenetic analysis revealing novel mutations in mitochondrial nucleic acid.
  85. pmc Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone
    Susan Lowey
    Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
    J Biol Chem 283:20579-89. 2008
    The R403Q mutation in the beta-myosin heavy chain (MHC) was the first mutation to be linked to familial hypertrophic cardiomyopathy (FHC), a primary disease of heart muscle...
  86. doi Prevention of hypertrophic cardiomyopathy-related deaths: theory and practice
    P Elliott
    The Heart Hospital, London, UK
    Heart 94:1269-75. 2008
    ..heart failure and stroke remains a major aim of clinical management in what is now called hypertrophic cardiomyopathy. In this paper, we review the underlying mechanisms of death and discuss the strengths and weaknesses ..
  87. pmc Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy
    Adriana Osio
    Center for Cardiovascular Genetic Research, The Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center, Houston, TX 77030, USA
    Circ Res 100:766-8. 2007
    b>Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in sarcomeric proteins (excluding phenocopy). The causal genes in approximately one-third of the cases remain unknown...
  88. ncbi Electrophysiologic manifestations of ventricular tachyarrhythmias provoking appropriate defibrillator interventions in high-risk patients with hypertrophic cardiomyopathy
    Yong Mei Cha
    Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    J Cardiovasc Electrophysiol 18:483-7. 2007
    Our objective was to determine features of ventricular tachyarrhythmias triggering appropriate implantable cardioverter-defibrillator (ICD) interventions in hypertrophic cardiomyopathy (HCM).
  89. ncbi Relation of left ventricular chamber stiffness at rest to exercise capacity in hypertrophic cardiomyopathy
    Carlos Alberto Dumont
    Cardiology Division, Juan Canalejo Hospital, A Coruna, Spain
    Am J Cardiol 99:1454-7. 2007
    ..of exercise capacity is poorly predicted by conventional markers of disease severity in patients with hypertrophic cardiomyopathy (HC)...
  90. ncbi Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
    Vera Noelle
    University Children s Hospital, Oststrasse 21 25, 04317 Leipzig, Germany
    Eur J Pediatr 164:223-6. 2005
    ..Persistent congenital thrombocytopenia and hyperferritinaemia in the absence of infection were noted. Bone marrow cytology revealed a macrophage activation of unknown aetiology...
  91. ncbi Value of real time three-dimensional echocardiography in patients with hypertrophic cardiomyopathy: comparison with two-dimensional echocardiography and magnetic resonance imaging
    Letícia S Bicudo
    Heart Institute InCor, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Echocardiography 25:717-26. 2008
    ..We sought to determine the value of RT3DE for evaluating patients with hypertrophic cardiomyopathy (HCM), in comparison with cardiac magnetic resonance imaging (MRI).
  92. pmc Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy
    R Thaman
    The Heart Hospital, University College London, London, UK
    Heart 91:920-5. 2005
    To determine the frequency of systolic impairment (SI) and its impact on the natural history of hypertrophic cardiomyopathy (HCM).
  93. doi Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy
    Shuxia Wang
    Department of Cardiology, Sino German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of Ministry of Education, Peking Union Medical College, Beijing, China
    Clin Cardiol 31:114-8. 2008
    ..No data are available on survival analysis and longitudinal evolution of patients with gene mutations of beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3) in Chinese...
  94. ncbi Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy
    Tsuyoshi Honda
    Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan
    Circ J 71:1263-7. 2007
    Patients with hypertrophic cardiomyopathy (HCM) frequently complain of angina-like symptoms in the absence of organic coronary stenoses. Coronary spasm might cause myocardial ischemia in HCM patients...
  95. ncbi A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy
    Kathryn M Meurs
    Department of Veterinary Clinical Sciences, Washington State University College of Veterinary Medicine, Pullman, WA 99164, USA
    Genomics 90:261-4. 2007
    Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings...
  96. ncbi Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
    Circulation 108:445-51. 2003
    Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes...
  97. pmc The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium
    Axel Neulen
    Institute of Vegetative Physiology, University of Cologne, Robert Koch Strasse 39, 50931 Cologne, Germany
    Basic Res Cardiol 104:751-60. 2009
    ..investigates the effects of the first mutation of troponin C (hcTnC(L29Q)) found in a patient with hypertrophic cardiomyopathy (HCM) on force-pCa relations and the interplay with phosphorylation of sarcomeric PKA substrates...
  98. ncbi Alterations of the architecture of subendocardial arterioles in patients with hypertrophic cardiomyopathy and impaired coronary vasodilator reserve: a possible cause for myocardial ischemia
    B Schwartzkopff
    Department of Cardiology, Pneumology and Angiology, Heinrich Heine University, Dusseldorf, Germany
    J Am Coll Cardiol 31:1089-96. 1998
    The study was designed to investigate the architecture of subendocardial arterioles of patients with hypertrophic cardiomyopathy (HCM) and angina pectoris with respect to coronary vasodilator reserve.
  99. ncbi Collagen remodeling and cardiac dysfunction in patients with hypertrophic cardiomyopathy: the significance of type III and VI collagens
    M Kitamura
    The Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan
    Clin Cardiol 24:325-9. 2001
    ..interstitial fibrosis, the percentage of each type of collagen, and cardiac function in patients with hypertrophic cardiomyopathy (HC) has not been established...
  100. ncbi Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
    K Elliott
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom
    J Biol Chem 275:22069-74. 2000
    ..Recently, specific missense mutations of the cTnI gene (TNNI3) have been shown to cause familial hypertrophic cardiomyopathy (HCM)...
  101. ncbi Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
    G F Cox
    Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    J Pediatr 133:247-53. 1998
    ..outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia...

Research Grants92

  1. Cardiac Myosin Binding Protein-C: Structure, Function, and Regulation
    David M Warshaw; Fiscal Year: 2010
    ..in cardiac myosin binding protein-C (cMyBP-C) lead to sudden death in young individuals with Familial Hypertrophic Cardiomyopathy. Despite Its clinical importance and its association with the actomyosin molecular motor of the heart, ..
  2. Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC Mutations
    Julian Borejdo; Fiscal Year: 2009
    Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease originating from mutations in genes that encode for the major contractile proteins of the heart, including the ventricular myosin regulatory (RLC) and essential ..
  3. Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC Mutations
    Danuta Szczesna Cordary; Fiscal Year: 2010
    Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease originating from mutations in genes that encode for the major contractile proteins of the heart, including the ventricular myosin regulatory (RLC) and essential ..
  4. Molecular Mechanisms of Disease in a Novel Feline Model of Familial Hypertrophic
    Samantha P Harris; Fiscal Year: 2010
    ..is to understand the molecular mechanisms by which mutations in Myosin Binding Protein-C (MyBP-C) cause hypertrophic cardiomyopathy (HCM), an autosomal dominant disorder that affects 1 in 500 people and is the most common cause of ..
  5. Arrhythmia Mechanisms in Sarcomeric Cardiomyopathies
    BJORN C contact KNOLLMANN; Fiscal Year: 2010
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
  6. Arrhythmia Mechanisms in Sarcomeric Cardiomyopathies
    Bjorn Knollmann; Fiscal Year: 2009
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
  7. MOTOR FUNCTION OF CARDIAC B MYOSIN MUTANTS
    Mitsuo Ikebe; Fiscal Year: 1999
    DESCRIPTION: Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disease characterized by ventricular hypertrophy, myofibriller disarray and a spectrum of clinical symptoms...
  8. The Role of the Proteasome in Troponin related Cardiomyopathies
    ALDRIN VERNO GOMES; Fiscal Year: 2010
    ..Mutations in cardiac troponin T (cTnT) are responsible for ~7% of all familial hypertrophic cardiomyopathy (FHC) cases...
  9. In Situ Sensing of Single Myosin Function in Hypertrophy Disease
    Thomas P Burghardt; Fiscal Year: 2010
    ..The cardiac myosin heavy chain (MHC) and both of its light chains (MLCs) harbor familial hypertrophic cardiomyopathy (FHC)-linked mutations. MHC mutants are hypothesized to disrupt specific transduction pathways...
  10. Cardiofaciocutaneous Syndrome & Noonan Syndrome Meeting
    Amy Roberts; Fiscal Year: 2006
    ..These two diagnoses have cardiovascular features in common including valvar pulmonary stenosis and hypertrophic cardiomyopathy. Particular facial features and developmental issues distinguish the two but the diagnoses are ..
  11. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2009
    ..contraction in the striated muscle system;in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
  12. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2010
    ..contraction in the striated muscle system;in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
  13. Discovery & Application of Proteomics-Based Biomarkers of Early Myocardial Injury
    Robert Gerszten; Fiscal Year: 2009
    ..in the cardiac catheterization suite, and patients experiencing a planned myocardial infarction for hypertrophic cardiomyopathy. In Specific Aim 2, we will then characterize novel early markers of myocardial injury in carefully ..
  14. GENE EXPRESSION DURING DROSOPHILA MYOGENESIS
    Allen Shearn; Fiscal Year: 1999
    ..aspects of myofibril assembly and function, and provided insights into the pathology of familial hypertrophic cardiomyopathy, nemaline myopathy, and Duchenne/Becker muscular dystrophies...
  15. MOLECULAR CONSEQUENCES OF SARCOMERE PROTEIN GENE MUTATIONS
    Jonathan Seidman; Fiscal Year: 2000
    ..focus of this project is to define the signaling pathways that lead from sarcomere gene mutation to hypertrophic cardiomyopathy, dilated cardiomyopathy, dilated cardiomyopathy and/or heart failure...
  16. MOLECULAR CONSEQUENCES OF SARCOMERE PROTEIN GENE MUTATIONS
    Jonathan Seidman; Fiscal Year: 2002
    ..focus of this project is to define the signaling pathways that lead from sarcomere gene mutation to hypertrophic cardiomyopathy, dilated cardiomyopathy, dilated cardiomyopathy and/or heart failure...
  17. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2011
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  18. MOLECULAR CONSEQUENCES OF SARCOMERE PROTEIN GENE MUTATIONS
    Jonathan Seidman; Fiscal Year: 2001
    ..focus of this project is to define the signaling pathways that lead from sarcomere gene mutation to hypertrophic cardiomyopathy, dilated cardiomyopathy, dilated cardiomyopathy and/or heart failure...
  19. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2010
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  20. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2001
    ..In mice lacking the AhR, embryos develop a hypertrophic cardiomyopathy and cardiac fibrosis which worsens with age, consistent with the potential overexpression of Na+/K+ ..
  21. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2004
    ..In mice lacking the AhR, embryos develop a hypertrophic cardiomyopathy and cardiac fibrosis which worsens with age, consistent with the potential overexpression of Na+/K+ ..
  22. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2002
    ..In mice lacking the AhR, embryos develop a hypertrophic cardiomyopathy and cardiac fibrosis which worsens with age, consistent with the potential overexpression of Na+/K+ ..
  23. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2003
    ..In mice lacking the AhR, embryos develop a hypertrophic cardiomyopathy and cardiac fibrosis which worsens with age, consistent with the potential overexpression of Na+/K+ ..
  24. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2000
    ..In mice lacking the AhR, embryos develop a hypertrophic cardiomyopathy and cardiac fibrosis which worsens with age, consistent with the potential overexpression of Na+/K+ ..
  25. ANISOTROPY IN MYOCARDIAL ULTRASOUND
    James Miller; Fiscal Year: 2009
    ..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
  26. ANISOTROPY IN MYOCARDIAL ULTRASOUND
    JAMES GEGAN MILLER; Fiscal Year: 2010
    ..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
  27. Spectroscopy of myosin light chain domain dynamics
    Osha Roopnarine; Fiscal Year: 2010
    ..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
  28. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2010
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  29. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2009
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  30. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2011
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  31. Spectroscopy of myosin light chain domain dynamics
    Osha Roopnarine; Fiscal Year: 2009
    ..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
  32. Spectroscopy of myosin light chain domain dynamics
    Osha Roopnarine; Fiscal Year: 2006
    ..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
  33. Spectroscopy of myosin light chain domain dynamics
    Osha Roopnarine; Fiscal Year: 2007
    ..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
  34. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2005
    The objective is to identify modifier genes that affect hypertrophy in human familial hypertrophic cardiomyopathy (FHCM) and determine whether pharmacological inhibition of their effects can induce regression of established hypertrophy ..
  35. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2003
    The objective is to identify modifier genes that affect hypertrophy in human familial hypertrophic cardiomyopathy (FHCM) and determine whether pharmacological inhibition of their effects can induce regression of established hypertrophy ..
  36. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2001
    The objective is to identify modifier genes that affect hypertrophy in human familial hypertrophic cardiomyopathy (FHCM) and determine whether pharmacological inhibition of their effects can induce regression of established hypertrophy ..
  37. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2004
    The objective is to identify modifier genes that affect hypertrophy in human familial hypertrophic cardiomyopathy (FHCM) and determine whether pharmacological inhibition of their effects can induce regression of established hypertrophy ..
  38. Modifier Genes of Familial Hypertrophic Cardiomyopathy
    ALI MARIAN; Fiscal Year: 2002
    The objective is to identify modifier genes that affect hypertrophy in human familial hypertrophic cardiomyopathy (FHCM) and determine whether pharmacological inhibition of their effects can induce regression of established hypertrophy ..
  39. Effect of Cardiomopathy Mutations on Myosin and Actin
    KATHLEEN TRYBUS; Fiscal Year: 2005
    ..in both the beta-cardiac myosin heavy chain and in alpha-cardiac actin lead to either familial hypertrophic cardiomyopathy (FHC) or dilated cardiomyopathy (DCM)...
  40. EFFECT OF CARDIOMYOPATHY MUTATIONS ON MYOSIN AND ACTIN
    KATHLEEN TRYBUS; Fiscal Year: 2004
    ..in both the beta-cardiac myosin heavy chain and in alpha-cardiac actin lead to either familial hypertrophic cardiomyopathy (FHC) or dilated cardiomyopathy (DCM)...
  41. Phase I/II trial rhGAA in infantile onset Pompe disease
    Yuan Chen; Fiscal Year: 2000
    ..the most common form of Pompe disease, infantile-onset, exhibit progressive muscle degeneration and hypertrophic cardiomyopathy leading to death usually before 1 year of age. There is currently no therapy for Pompe disease...
  42. Using Genetics for Early Phenotyping & Prevention of Hypertrophic Cardiomyopathy
    Christine E Seidman; Fiscal Year: 2010
    ..b>Hypertrophic cardiomyopathy (HOM) provides a paradigm for realizing this opportunity...
  43. FHC Tn Mutations: Functional Consequences & Mechanisms
    James Potter; Fiscal Year: 2005
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease, which has been associated with mutations in almost every major cardiac sarcomeric protein...
  44. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2003
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  45. Molecular mechanics of mutant cardiac myosin
    Jeffrey R Moore; Fiscal Year: 2010
    ..by applicant): The cardiac hypertrophy, myofibrillar disarray and sudden death caused by familial hypertrophic cardiomyopathy (FHC) results from autosomal dominant mutations in sarcomeric proteins...
  46. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2002
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  47. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2001
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  48. FHC Tn Mutations: Functional Consequences & Mechanisms
    James Potter; Fiscal Year: 2002
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease, which has been associated with mutations in almost every major cardiac sarcomeric protein...
  49. FHC Tn Mutations: Functional Consequences & Mechanisms
    James Potter; Fiscal Year: 2003
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease, which has been associated with mutations in almost every major cardiac sarcomeric protein...
  50. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2003
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  51. FHC Tn Mutations: Functional Consequences & Mechanisms
    James Potter; Fiscal Year: 2004
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease, which has been associated with mutations in almost every major cardiac sarcomeric protein...
  52. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2000
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  53. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2007
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  54. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2007
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  55. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2009
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  56. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2005
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  57. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2006
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  58. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2009
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  59. SCOR IN HEART FAILURE
    Robert Roberts; Fiscal Year: 1999
    ..In Projects 1-2, we will investigate the molecular basis for hypertrophic cardiomyopathy (HCM) and myotonic dystrophy (DM)...
  60. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2003
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  61. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2005
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  62. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2002
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  63. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2001
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  64. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2004
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  65. CARDIAC MYOSIN--MOLECULAR STRUCTURE/FUNCTION
    Norman Alpert; Fiscal Year: 1999
    ..structure compromises its mechanical function, leading to sudden death in patients with familial hypertrophic cardiomyopathy (FHCM)...
  66. RYANODINE RECEPTORS, Ca2+-TRIGGERED ARRHYTHMIAS AND HCM
    HECTOR VALIDA; Fiscal Year: 2011
    ..tachycardia in individuals with an apparently normal heart, and have very recently been associated with Hypertrophic Cardiomyopathy (HCM), a major cause of sudden cardiac arrest where excessive cardiac mass leads to abnormalities in ..
  67. ELECTROPHYSIOLOGY OF TRANSGENIC CARDIOMYOPATHIC MICE
    Charles Berul; Fiscal Year: 1999
    ..this proposal is to investigate the molecular mechanisms underlying cardiac conduction disturbances in hypertrophic cardiomyopathy. In order to assess directly the role of specific gene products in cardiac conduction in vivo using ..
  68. ELECTROPHYSIOLOGY OF TRANSGENIC CARDIOMYOPATHIC MICE
    Charles Berul; Fiscal Year: 2001
    ..this proposal is to investigate the molecular mechanisms underlying cardiac conduction disturbances in hypertrophic cardiomyopathy. In order to assess directly the role of specific gene products in cardiac conduction in vivo using ..
  69. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2000
    ..of cardiac muscle contraction by troponin and to determine its role in the genesis of familial hypertrophic cardiomyopathy (FHC). There are two major projects: In I...
  70. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2002
    ..of cardiac muscle contraction by troponin and to determine its role in the genesis of familial hypertrophic cardiomyopathy (FHC). There are two major projects: In I...
  71. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2003
    ..in the regulation of cardiac muscle contraction by troponin and to determine its role in familial hypertrophic cardiomyopathy (FHC). SPECIFIC AIM 1. Cardiac TnT (CTnT) Isoforms and the Regulation of Contraction...
  72. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2004
    ..in the regulation of cardiac muscle contraction by troponin and to determine its role in familial hypertrophic cardiomyopathy (FHC). SPECIFIC AIM 1. Cardiac TnT (CTnT) Isoforms and the Regulation of Contraction...
  73. ELECTROPHYSIOLOGY OF TRANSGENIC CARDIOMYOPATHIC MICE
    Charles Berul; Fiscal Year: 2000
    ..this proposal is to investigate the molecular mechanisms underlying cardiac conduction disturbances in hypertrophic cardiomyopathy. In order to assess directly the role of specific gene products in cardiac conduction in vivo using ..
  74. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2005
    ..in the regulation of cardiac muscle contraction by troponin and to determine its role in familial hypertrophic cardiomyopathy (FHC). SPECIFIC AIM 1. Cardiac TnT (CTnT) Isoforms and the Regulation of Contraction...
  75. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2006
    ..in the regulation of cardiac muscle contraction by troponin and to determine its role in familial hypertrophic cardiomyopathy (FHC). SPECIFIC AIM 1. Cardiac TnT (CTnT) Isoforms and the Regulation of Contraction...
  76. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 1999
    ..of cardiac muscle contraction by troponin and to determine its role in the genesis of familial hypertrophic cardiomyopathy (FHC). There are two major projects: In I...
  77. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2001
    ..of cardiac muscle contraction by troponin and to determine its role in the genesis of familial hypertrophic cardiomyopathy (FHC). There are two major projects: In I...
  78. FAMILIAL HYPERTROPHIC CARDIOMYOPATHY--SARCOMERIC DISEASE
    David Warshaw; Fiscal Year: 2000
    Familial hypertrophic cardiomyopathy (FHC), an inherited disease with a high incidence of premature death due to cardiac failure, has its genetic loci in the contractile proteins in the heart...
  79. MECHANISM OF VENTRICULAR OUTFLOW OBSTRUCTION IN IHSS
    Robert Levine; Fiscal Year: 1990
    ..The knowledge to be gained from these studies could help us tailor therapy for this complex and vexing clinical problem...
  80. FAMILIAL HYPERTROPHIC CARDIOMYOPATHY--SARCOMERIC DISEASE
    David Warshaw; Fiscal Year: 1999
    Familial hypertrophic cardiomyopathy (FHC), an inherited disease with a high incidence of premature death due to cardiac failure, has its genetic loci in the contractile proteins in the heart...
  81. FAMILIAL HYPERTROPHIC CARDIOMYOPATHY--SARCOMERIC DISEASE
    David Warshaw; Fiscal Year: 2001
    Familial hypertrophic cardiomyopathy (FHC), an inherited disease with a high incidence of premature death due to cardiac failure, has its genetic loci in the contractile proteins in the heart...
  82. Cardiac Muscle: Functional Role of Myosin - Binding Protein C in Contraction
    Robert W Kensler; Fiscal Year: 2010
    ..by applicant): Mutations in the thick filament associated protein cMyBP-C are a major cause of familial hypertrophic cardiomyopathy. The pathological effects of mutations in cardiac myosin binding protein-C are consistent with ..
  83. Cardiac Muscle: Functional Role of Myosin - Binding Protein C in Contraction
    ROBERT KENSLER; Fiscal Year: 2009
    ..by applicant): Mutations in the thick filament associated protein cMyBP-C are a major cause of familial hypertrophic cardiomyopathy. The pathological effects of mutations in cardiac myosin binding protein-C are consistent with ..
  84. Molecular Signaling in Cardiac Sarcomeres
    R John Solaro; Fiscal Year: 2011
    ..kinase (AMPK) in aerobic conditions in hearts expressing mutant troponin I (cTnl) linked to familial hypertrophic cardiomyopathy (FHC), ii) phosphorylation of cTnl by AMPK;iii) identification of novel cTnl sites of phosphorylation ..
  85. FAMILIAL HYPERTROPHIC CARDIOMYOPATHY--SARCOMERIC DISEASE
    David Warshaw; Fiscal Year: 2002
    Familial hypertrophic cardiomyopathy (FHC), an inherited disease with a high incidence of premature death due to cardiac failure, has its genetic loci in the contractile proteins in the heart...
  86. FAMILIAL HYPERTROPHIC CARDIOMYOPATHY--SARCOMERIC DISEASE
    David Warshaw; Fiscal Year: 2003
    Familial hypertrophic cardiomyopathy (FHC), an inherited disease with a high incidence of premature death due to cardiac failure, has its genetic loci in the contractile proteins in the heart...
  87. Allele-specific Effects-Single Amino Acid Exchanges/cTnT
    JIL TARDIFF; Fiscal Year: 2005
    ..In fact, mutations in cardiac Troponin T (cTnT) result in a particularly severe form of Familial Hypertrophic Cardiomyopathy (FHC) characterized by a high frequency of early sudden cardiac death in the absence of overt ..
  88. Troponin T mutations and Sudden Cardiac Death
    Bjorn Knollmann; Fiscal Year: 2005
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding cardiac contractile proteins, and an important cause of Sudden Cardiac Death (SCD)...
  89. Cardiac Troponin in Health and Disease
    James Potter; Fiscal Year: 2009
    ..current proposal will determine the effect of mutations in cTnT, cTnI and cTnC, known to cause familial hypertrophic cardiomyopathy (FHC or HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM) on the biochemical, ..
  90. Troponin T mutations and Sudden Cardiac Death
    Bjorn Knollmann; Fiscal Year: 2006
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding cardiac contractile proteins, and an important cause of Sudden Cardiac Death (SCD)...
  91. Cardiac Troponin in Health and Disease
    JAMES DOUGLAS POTTER; Fiscal Year: 2010
    ..current proposal will determine the effect of mutations in cTnT, cTnI and cTnC, known to cause familial hypertrophic cardiomyopathy (FHC or HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM) on the biochemical, ..