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. 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
  2. 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
  3. 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
  4. 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
  5. 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
  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. ncbi Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
  8. 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
  9. 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
  10. 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

Detail Information

Publications324 found, 100 shown here

  1. 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...
  2. 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 ..
  3. 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).
  4. 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...
  5. 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 ..
  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. ncbi Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy
    Bhaswati Pandit
    Center for Molecular Cardiology, Department of Pediatrics and Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, One Gustave L Levy Place, New York, New York 10029, USA
    Nat Genet 39:1007-12. 2007
    ..Of 19 subjects with a RAF1 mutation in two hotspots, 18 (or 95%) showed hypertrophic cardiomyopathy (HCM), compared with the 18% prevalence of HCM among individuals with Noonan syndrome in general...
  8. 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...
  9. 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.
  10. 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 ..
  11. 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.
  12. 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...
  13. ncbi 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.
  14. ncbi Hypertrophic cardiomyopathy: an important global disease
    Barry J Maron
    Am J Med 116:63-5. 2004
  15. ncbi Hypertrophic cardiomyopathy: a systematic review
    Barry J Maron
    Minneapolis Heart Institute Foundation, 920 E 28th St, Suite 60, Minneapolis, MN 55407, USA
    JAMA 287:1308-20. 2002
    Throughout the past 40 years, a vast and sometimes contradictory literature has accumulated regarding hypertrophic cardiomyopathy (HCM), a genetic cardiac disease caused by a variety of mutations in genes encoding sarcomeric proteins and ..
  16. ncbi A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathy
    Robert W Taylor
    Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4HH, UK
    J Am Coll Cardiol 41:1786-96. 2003
    The purpose of this study was to understand the clinical and molecular features of familial hypertrophic cardiomyopathy (HCM) in which a mitochondrial abnormality was strongly suspected.
  17. 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...
  18. ncbi 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).
  19. ncbi 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).
  20. 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...
  21. ncbi Biomarkers of pathophysiology in hypertrophic cardiomyopathy: implications for clinical management and prognosis
    Francisco Cambronero
    Department of Cardiology, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
    Eur Heart J 30:139-51. 2009
    ..aim of the present systematic review is to provide an overview of different biomarkers in patients with hypertrophic cardiomyopathy that could give some insight into the pathophysiologic mechanism(s) underlying the typical clinical and ..
  22. ncbi Influence of the pattern of hypertrophy on left ventricular twist in hypertrophic cardiomyopathy
    B M Van Dalen
    Department of Cardiology, The Thoraxcenter, Erasmus University Medical Center, Rotterdam, The Netherlands
    Heart 95:657-61. 2009
    ..The influence of the pattern of LV hypertrophy on LV twist in hypertrophic cardiomyopathy (HCM) patients is unknown...
  23. ncbi Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency
    M Jaksch
    Institute of Clinical Chemistry, Molecular Diagnostics and Mitochondrial Genetics, Institute of Diabetes Research of the Academic Hospital Schwabing, Munich, Germany
    Hum Mol Genet 9:795-801. 2000
    ..data indicate that mutations in SCO2 cause a fatal infantile mitochondrial disorder characterized by hypertrophic cardiomyopathy and encephalopathy, and point to the presence of one or more other genes, perhaps in the copper ..
  24. ncbi Mutations profile in Chinese patients with hypertrophic cardiomyopathy
    Lei Song
    Sino German Laboratory for Molecular Medicine, Fuwai Hospital and Cardiovascular Institute, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China
    Clin Chim Acta 351:209-16. 2005
    There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown.
  25. pmc Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin
    J Martijn Bos
    Department of Internal Medicine, Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Mol Genet Metab 88:78-85. 2006
    ..have been established as cardiomyopathy-associated genes for both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM)...
  26. 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).
  27. ncbi Association between regional ventricular function and myocardial fibrosis in hypertrophic cardiomyopathy assessed by speckle tracking echocardiography and delayed hyperenhancement magnetic resonance imaging
    Zoran B Popovic
    Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    J Am Soc Echocardiogr 21:1299-305. 2008
    The relationship among myocardial fibrosis, segmental strains, and hypertrophic cardiomyopathy (HCM) in patients with preserved left ventricular ejection fraction is not known...
  28. ncbi Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutations
    Josepha Binder
    Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
    Mayo Clin Proc 81:459-67. 2006
    To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations.
  29. pmc Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy
    J C Tardiff
    Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Colorado 80309, USA
    J Clin Invest 104:469-81. 1999
    Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic cardiomyopathy (FHC)...
  30. 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...
  31. ncbi Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy
    Paule Benit
    INSERM U393, Hopital Necker Enfants Malades, Paris, France
    Hum Mutat 21:582-6. 2003
    ..encoding NADH dehydrogenase ubiquinone flavoprotein 2) causes complex I deficiency and early onset hypertrophic cardiomyopathy with trunk hypotonia in three affected sibs of a consanguineous family...
  32. 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...
  33. ncbi A mutation in the N-terminus of troponin I that is associated with hypertrophic cardiomyopathy affects the Ca(2+)-sensitivity, phosphorylation kinetics and proteolytic susceptibility of troponin
    Aldrin V Gomes
    Department of Molecular and Cellular Pharmacology, University of Miami Miller School of Medicine, 1600 N W 10th Avenue, Miami, FL 33136, USA
    J Mol Cell Cardiol 39:754-65. 2005
    ..32 residue region, R21C (arginine residue number 21 mutated to cysteine), which has been linked to hypertrophic cardiomyopathy (HCM), has recently been reported...
  34. 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.
  35. ncbi Echocardiography in hypertrophic cardiomyopathy: the role of conventional and emerging technologies
    Luis C Afonso
    Division of Cardiology, Wayne State University, Detroit, Michigan, USA
    JACC Cardiovasc Imaging 1:787-800. 2008
    b>Hypertrophic cardiomyopathy is a relatively common inherited cardiomyopathy that is occasionally challenging to differentiate from hypertensive heart disease and athlete hearts on the basis of morphologic or functional abnormalities ..
  36. ncbi Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion
    Houman Ashrafian
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Trends Genet 19:263-8. 2003
    Genetic analysis of hypertrophic cardiomyopathy (HCM), a mendelian form of cardiac hypertrophy, indicates that the primary defect is in sarcomeric function...
  37. pmc Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathy
    E Warwick Daw
    Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA
    Hum Mol Genet 16:2463-71. 2007
    b>Hypertrophic cardiomyopathy (HCM) is a disease of mutant sarcomeric proteins (except for phenocopy)...
  38. pmc Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy
    L Fananapazir
    Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 90:3993-7. 1993
    b>Hypertrophic cardiomyopathy (HCM) is an important cause of sudden death in apparently healthy young individuals. In less than half of kindreds with HCM, the disease is linked to the beta-myosin heavy-chain gene locus (MYH7)...
  39. ncbi 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.
  40. 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).
  41. 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
    ....
  42. 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...
  43. 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).
  44. 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...
  45. ncbi 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 ..
  46. ncbi 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.
  47. pmc Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in mice
    Youchun Jiang
    Department of Medicine, University of Louisville School of Medicine, Louisville, KY 40202, USA
    J Exp Med 204:657-66. 2007
    ..dietary supplementation with physiologically relevant levels of copper (Cu) reverses preestablished hypertrophic cardiomyopathy caused by pressure overload induced by ascending aortic constriction in a mouse model...
  48. 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.
  49. 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)...
  50. 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...
  51. 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...
  52. 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...
  53. ncbi 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...
  54. pmc The molecular genetic basis for hypertrophic cardiomyopathy
    A J Marian
    Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
    J Mol Cell Cardiol 33:655-70. 2001
    b>Hypertrophic cardiomyopathy (HCM), a relatively common disease, is diagnosed clinically by unexplained cardiac hypertrophy and pathologically by myocyte hypertrophy, disarray, and interstitial fibrosis...
  55. 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.
  56. 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...
  57. pmc Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling
    J Ingles
    J Med Genet 42:e59. 2005
    To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM).
  58. 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...
  59. 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...
  60. 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...
  61. pmc Targeted inhibition of p38 MAPK promotes hypertrophic cardiomyopathy through upregulation of calcineurin-NFAT signaling
    Julian C Braz
    Department of Pediatrics, University of Cincinnati, Children s Hospital Medical Center, Cincinnati, Ohio, USA
    J Clin Invest 111:1475-86. 2003
    ..More significantly, genetic disruption of the calcineurin Abeta gene rescued hypertrophic cardiomyopathy and depressed functional capacity observed in p38-inhibited mice...
  62. ncbi Myocardial collagen turnover in hypertrophic cardiomyopathy
    Raffaella Lombardi
    Department of Clinical Medicine, Cardiovascular and Immunological Sciences, Federico II University School of Medicine, Naples, Italy
    Circulation 108:1455-60. 2003
    Myocardial interstitial fibrosis is a characteristic of hypertrophic cardiomyopathy (HCM). This study evaluates the collagen turnover in HCM and its impact on left ventricular (LV) diastolic function.
  63. ncbi Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy
    B C Knollmann
    Department of Medicine, Georgetown University Medical Center, Washington, DC, USA
    Trends Cardiovasc Med 11:206-12. 2001
    Mutations in cardiac Troponin T (TnT) are responsible for approximately 15% of all cases of familial hypertrophic cardiomyopathy (FHC)...
  64. ncbi Differentiation between pathologic and physiologic left ventricular hypertrophy by tissue Doppler assessment of long-axis function in patients with hypertrophic cardiomyopathy or systemic hypertension and in athletes
    D Vinereanu
    Wales Heart Research Institute, University of Wales College of Medicine, Heath Park, Cardiff, United Kingdom
    Am J Cardiol 88:53-8. 2001
    ..hypertrophy, we compared 60 subjects with different types of LV hypertrophy (group I: 15 patients with hypertrophic cardiomyopathy, group II: 15 patients with systemic hypertension, and group III: 30 athletes) with 20 normal subjects (..
  65. ncbi Serum cardiac troponin I is related to increased left ventricular wall thickness, left ventricular dysfunction, and male gender in hypertrophic cardiomyopathy
    Toru Kubo
    Department of Medicine and Geriatrics, Kochi Medical School, Kochi, Japan
    Clin Cardiol 33:E1-7. 2010
    Serum cardiac troponin I (cTnI) is a sensitive and specific marker of myocardial injury. However, a systematic evaluation of cTnI in hypertrophic cardiomyopathy (HCM) patients has not been performed.
  66. ncbi Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein
    C Redwood
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Circ Res 86:1146-52. 2000
    Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in at least 8 contractile protein genes, most commonly beta myosin heavy chain, myosin binding protein C, and cardiac troponin T...
  67. ncbi Timing and significance of exercise-induced left ventricular outflow tract pressure gradients in hypertrophic cardiomyopathy
    Stefano Nistri
    CMSR Veneto Medica, Altavilla Vicentina, Italy
    Am J Cardiol 106:1301-6. 2010
    ..relation of exercise-induced left ventricular (LV) outflow tract obstruction to functional capacity in hypertrophic cardiomyopathy (HC) is incompletely defined...
  68. ncbi Interactions between sleep disordered breathing and atrial fibrillation in patients with hypertrophic cardiomyopathy
    Tomas Konecny
    Mayo Clinic, Rochester, Minnesota, USA
    Am J Cardiol 105:1597-602. 2010
    The aim of this study was to investigate whether patients with hypertrophic cardiomyopathy (HC) and sleep disordered breathing (SDB) have a higher prevalence of atrial fibrillation (AF) compared to patients with HC without SDB...
  69. ncbi Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    N Engl J Med 326:1108-14. 1992
    Familial hypertrophic cardiomyopathy is characterized by a variable degree of myocardial hypertrophy and a wide range of symptoms...
  70. pmc Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier
    Eliecer Coto
    Genetica Molecular, Red de Investigación Renal, and Fundación Renal, Hospital Universitario Central de Asturias, Oviedo, Spain
    J Transl Med 8:64. 2010
    ..DNA polymorphisms at the genes encoding components of the angiotensin and serotonin systems have been associated with the risk of developing cardiovascular diseases, including left ventricular hypertrophy (LVH)...
  71. ncbi Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathy
    Jeanne L Theis
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    Biochem Biophys Res Commun 351:896-902. 2006
    b>Hypertrophic cardiomyopathy (HCM) can be classified into at least four major anatomic subsets based upon the septal contour, and the location and extent of hypertrophy: reverse curvature-, sigmoidal-, apical-, and neutral contour-HCM...
  72. ncbi Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy
    Shirley M Lo-A-Njoe
    Department of Pediatric Cardiology, Leiden University Medical Center, The Netherlands
    Heart Rhythm 2:1365-8. 2005
  73. ncbi Abnormally thickened papillary muscle resulting in dynamic left ventricular outflow tract obstruction: an unusual presentation of hypertrophic cardiomyopathy
    Bethany A Austin
    Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    J Am Soc Echocardiogr 22:105.e5-6. 2009
    We report the case of a symptomatic 18-year-old patient, gene-positive for hypertrophic cardiomyopathy (HCM), who presented with symptomatic dynamic left ventricular outflow tract (LVOT) obstruction caused by an abnormally thickened ..
  74. ncbi Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathy
    Aleksander Hinek
    Division of Cardiovascular Research, The Hospital for Sick Children, Toronto, Canada
    Am J Med Genet A 133:1-12. 2005
    ..facial features, skeletal abnormalities, cardiac abnormalities (cardiovascular malformation (CVM), hypertrophic cardiomyopathy, tachycardia), predisposition to malignancy, developmental delays, and mental retardation...
  75. ncbi Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy
    J F Forissier
    Unité de Recherches 153 de l INSERM, Paris, France
    Circulation 94:3069-73. 1996
    Familial hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease...
  76. ncbi Left atrial remodelling in hypertrophic cardiomyopathy: relation with exercise capacity and biochemical markers of tissue strain and remodelling
    D Saura
    Hospital Universitario Virgen de la Arrixaca, Murcia, Spain
    Int J Clin Pract 63:1465-71. 2009
    ..The aim of this study was to analyse the influence of LAV on exercise performance in hypertrophic cardiomyopathy (HCM), and in a subset of subjects, assess the relation of LAV and exercise performance to four ..
  77. pmc Evaluation of left ventricular outflow tract gradient during treadmill exercise and in recovery period in orthostatic position, in patients with hypertrophic cardiomyopathy
    Rita Miranda
    Hospital Garcia de Orta, Cardiology Department, Almada, Portugal
    Cardiovasc Ultrasound 6:19. 2008
    Left ventricular outflow tract obstruction is an independent predictor of adverse outcome in hypertrophic cardiomyopathy (HCM)...
  78. 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 ..
  79. 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).
  80. 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...
  81. 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...
  82. 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...
  83. 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...
  84. 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 ..
  85. 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...
  86. 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
  87. 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 ..
  88. 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, ..
  89. 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...
  90. 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...
  91. 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...
  92. 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
  93. 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...
  94. 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.
  95. 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.
  96. 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
  97. 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...
  98. 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 ..
  99. 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.
  100. ncbi 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).
  101. ncbi 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...

Research Grants71

  1. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2013
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  2. Arrhythmia Mechanisms in Sarcomeric Cardiomyopathies
    Bjorn C Knollmann; Fiscal Year: 2012
    Project Summary/Abstract Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
  3. Mitochondrial chaperones mortalin and Tid1 in protein degradation
    Carolyn K Suzuki; Fiscal Year: 2012
    ..fibrosis, amyotrophic lateral sclerosis (ALS), short chain acyl-CoA dehydrogenase (SCAD) deficiency and hypertrophic cardiomyopathy. Mitochondrial proteins are at increased risk of protein misfolding and aggregation as they are located ..
  4. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2013
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  5. Molecular mechanics of mutant cardiac myosin
    Jeffrey R Moore; Fiscal Year: 2013
    ..by applicant): The cardiac hypertrophy, myofibrillar disarray and sudden death caused by familial hypertrophic cardiomyopathy (FHC) results from autosomal dominant mutations in sarcomeric proteins...
  6. IGF::OT::IGF
    Vivian Leung; Fiscal Year: 2013
    ..risk for sudden death in the young (SDY) include Dravet Syndrome, other genetic forms of epilepsy, hypertrophic cardiomyopathy, coronary artery anomalies of wrong sinus origin, arrhythmogenic right ventricular cardiomyopathy, and ..
  7. Using Genetics For Early Phenotyping &Prevention of Hypertrophic Cardiomyopathy
    Christine E Seidman; Fiscal Year: 2013
    ..b>Hypertrophic cardiomyopathy (HCM) provides a paradigm for fulfilling this opportunity...
  8. Molecular Basis of Noonan Syndrome and Related Disorder
    Bruce D Gelb; Fiscal Year: 2013
    ..that include short stature, mental retardation and cardiac abnormalities such as pulmonic stenosis and hypertrophic cardiomyopathy (HCM)...
  9. Myosin ELC, a novel therapeutic target for FHC
    Danuta Szczesna-Cordary; Fiscal Year: 2013
    ..ELC is highlighted by the recent identification of several missense mutations shown to cause Familial Hypertrophic Cardiomyopathy (FHC), a genetic disorder manifested by ventricular enlargement, myofilament disarray and sudden ..
  10. Functional Consequences of FHC-linked RLC Mutations.
    Danuta Szczesna-Cordary; Fiscal Year: 2012
    Familial hypertrophic cardiomyopathy (FHC) is one of the pathological compensatory manifestations found in the heart resulting from its inability to adequately pump blood, thus leading to hypertrophy and often to premature cardiac death...
  11. HCMR Novel Markers of Prognosis in Hypertrophic Cardiomyopathy
    Stefan Neubauer; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease (prevalence 1 in 500) and the most frequent cause of sudden cardiac death (SCD) in the young...
  12. Hypertrophy Regression with N-Acetylcysteine in Hypertrophic Cardiomyopathy
    Ali J Marian; Fiscal Year: 2013
    The primary objective is to perform a pilot study in patients with hypertrophic cardiomyopathy (HCM) and mutations in genes encoding sarcomere proteins to assess safety and gather the pre-requisite data for subsequent robust randomized ..
  13. The Role of the Proteasome in Troponin related Cardiomyopathies
    ALDRIN VERNO GOMES; Fiscal Year: 2013
    ..Mutations in cardiac troponin T (cTnT) are responsible for ~7% of all familial hypertrophic cardiomyopathy (FHC) cases...
  14. Genetics and Molecular Biology of Striated Muscle Myosin
    Sanford I Bernstein; Fiscal Year: 2013
    ..For Aim 2, we will examine the mechanistic basis of myosin dysfunction caused by two hypertrophic cardiomyopathy mutations...
  15. ROLE OF AUTOPHAGIC FLUX IN CARDIAC MYOCYTE VIABILITY
    Abhinav Diwan; Fiscal Year: 2013
    ..constitutive autophagy is central to the pathogenesis of Danon disease, characterized by development of hypertrophic cardiomyopathy and fulminant heart failure in young adults, leading to early death...
  16. Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC Mutations
    Danuta Szczesna-Cordary; Fiscal Year: 2012
    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 ..
  17. CARDIAC CONTRACTILE KINETICS
    Michael Regnier; Fiscal Year: 2009
    ..Heart Disease is the leading cause of death in the United States and pathologies such as diabetes, hypertrophic cardiomyopathy, hypothyroidism and heart failure, as well as ischemia/reperfusion injury, involve alterations in ..
  18. The role of Raf-MEK signaling in the pathogenesis of hypertrophic cardiomyopathy
    JASON BECKER; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypertrophic cardiomyopathy (HCM), a disease characterized by abnormal thickening of the ventricular myocardium, is a common genetic cause of heart failure and sudden death...
  19. MITOCHONDRIAL FUSION FACTORS AND CARDIOMYOPATHY
    Gerald W Dorn; Fiscal Year: 2013
    ..Further, by DNA sequencing a large hypertrophic cardiomyopathy (HCM) cohort my laboratory discovered the first genetic evidence linking a mitochondrial fusion/fission ..
  20. Integrative Approach to Divergent Remodeling in Thin Filament Cardiomyopathies
    Jil C Tardiff; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypertrophic Cardiomyopathy (HCM) is a relatively common disorder, affecting 1/500 individuals...
  21. A TG model for functional effects of FHC mutations in b-cardiac myosin
    Susan Lowey; Fiscal Year: 2013
    ..by applicant): Mutations in the ?-myosin heavy chain (MHC) are among the major causes of familial hypertrophic cardiomyopathy (FHC), a relatively widespread heart disease in humans...
  22. Mechanism of SRF-N-mediated Cardiac Suppression
    Jiang Chang; Fiscal Year: 2013
    ..The novelty includes 1) the demonstration of SRF-N-mediated hypertrophic cardiomyopathy in intact heart;2) the identification of two SRF-dependent enhancers regulating miR-133a expression;and ..
  23. Onset and Progression of Contractile Dysfunction in Hypertrophic Cardiomyopathy
    PETER P CHEN; Fiscal Year: 2012
    ..One of the important causes of cardiac dysfunction in patients suffering from CHF is the development of hypertrophic cardiomyopathy (HCM), a genetically heterogeneous disease of the heart characterized by left ventricular hypertrophy ..
  24. Dissecting Genetic Mechanisms of Hypertrophic Cardiomyopathy by ENU Mutagenesis
    Ferhaan Ahmad; Fiscal Year: 2012
    ..b>Hypertrophic cardiomyopathy (HCM), the most common heritable cardiovascular disorder (prevalence 1:500), has been associated with ..
  25. The Role of Galectin-3 in Cardiac Remodeling and Heart Failure
    JENNIFER EN SIAN HO; Fiscal Year: 2013
    ..and vascular function in the community (Aim 1), and the relation of Galectin-3 to cardiac phenotypes in hypertrophic cardiomyopathy, a condition marked by cardiac fibrosis (Aim 2). Lastly, Dr...
  26. Structural Comparison of Strongly-Bound Actomyosin States
    Dorit Hanein; Fiscal Year: 2009
    ..in the context of the actomyosin assembly and disease-causing mutations associated with familial hypertrophic cardiomyopathy. PUBLIC HEALTH REVELANCE: Heart failure is a world wide public health problem that affects several ..
  27. In Situ Sensing of Single Myosin Function in Hypertrophy Disease
    Thomas P Burghardt; Fiscal Year: 2013
    ..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...
  28. INTEGRATED MECHANISMS OF CARDIAC MALADAPTATION
    R John Solaro; Fiscal Year: 2013
    ..to metabolic signaling activation via AMPK/Paki (with emphasis on the evolution and rescue of familial hypertrophic cardiomyopathy (FHC);and via PKCe, and with emphasis on dilated cardiomyopathy, novel phosphorylation sites and on ..
  29. Human Induced Pluripotent Cell Models of Pediatric Cardiac Disorders
    Ihor R Lemischka; Fiscal Year: 2013
    ..For this project, we intend to study inherited forms of childhood myocardial disease: hypertrophic cardiomyopathy (HCM) associated with RAS signaling abnormalities and atrial muscle-related tachycardia associated with ..
  30. Discovery &Application of Proteomics-Based Biomarkers of Early Myocardial Injury
    Marc S Sabatine; Fiscal Year: 2012
    ..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 ..
  31. Cardiolipin and the mitochondrial ADP/ATP carrier interactome
    STEVEN MICHAEL CLAYPOOL; Fiscal Year: 2013
    ..ANT1 deficiencies and mutations have been linked to numerous diseases including hypertrophic cardiomyopathy. Moreover, there are a multitude of pathologies caused by alterations in CL metabolism including both ..
  32. Acute and Chronic Regulation of 20S Proteasome Function by cAMP-Dependent Kinase
    SARAH SCRUGGS; Fiscal Year: 2012
    ..The relevance of our findings lies in the discovery of a novel protein degradation pathway to combat hypertrophic cardiomyopathy, thus providing information to guide therapeutic design and application in patients afflicted with this ..
  33. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2012
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  34. Cardiac Myosin Binding Protein-C: Structure, Function, and Regulation
    David M Warshaw; Fiscal Year: 2013
    ..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, ..
  35. Role of DLD in oxidative stress-induced cardiac disease
    RACHAEL VAUBEL; Fiscal Year: 2012
    ..These mutations cause a fatal metabolic disorder of infancy associated with hypertrophic cardiomyopathy, suggesting that they alter the balance between ATP production and ROS generation, which is ..
  36. Myosin structural and kinetic mechanisms that differentiate fast and slow muscle
    Douglas M Swank; Fiscal Year: 2012
    ..recent hypotheses regarding how at least 8 different mutations in the converter cause either familial hypertrophic cardiomyopathy (FHC) or dilated cardiaomyopathy (DCM)...
  37. Myosin Binding Protein C structure-function relationships in the failing heart
    Pieter P de Tombe; Fiscal Year: 2010
    ..Mutations in this protein alone are associated with over half of the documented cases of familial hypertrophic cardiomyopathy. In addition, recent data strongly suggest an important role for post-translational modification (..
  38. Murine 3D Engineered Tissue Model of Human MYBPC3 Mutations
    JOHN CARTER RALPHE; Fiscal Year: 2013
    ..cMyBP-C mutations are one of the leading genetic causes of hypertrophic cardiomyopathy (HCM), a disease with a human prevalence of 1 in 500...
  39. Metabolomic Biomarkers of Early Myocardial Injury
    Marc S Sabatine; Fiscal Year: 2013
    ..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 ..
  40. Sarcomere Length Shortening and the Destabilization of the Ca2+ Control System in
    Leighton T Izu; Fiscal Year: 2012
    ..Mice expressing genetically defined familiar hypertrophic cardiomyopathy (FHC) and spontaneous hypertensive rats will be examined...
  41. Development of a Hypertrophic Cardiomyopathy Consortium
    Theodore P Abraham; Fiscal Year: 2012
    b>Hypertrophic cardiomyopathy (HCM) is the commonest inherited cardiovascular disorder occurring in 1 in 500 persons worldwide...
  42. Molecular dynamics studies of muscle proteins
    EDWARD F PATE; Fiscal Year: 2010
    ..study mutations in the coiled-coil regulatory protein, tropomyosin, which are associated with familial hypertrophic cardiomyopathy (FHC)...
  43. Therapeutic Microlesioning by Contrast Echocardiography for Myocardial Reduction
    Oliver D Kripfgans; Fiscal Year: 2013
    DESCRIPTION (provided by applicant): Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease, occurring in 1 in 500 people. For some young patients, the first sign is sudden death...
  44. TROPONIN MODULATION IN HEART FAILURE
    Beata M Wolska; Fiscal Year: 2013
    ..or attenuate the development of hypertrophy and dysfunction in transgenic mouse models of familial hypertrophic cardiomyopathy (HCM)...
  45. Influence of the Cardiomyocyte Circadian Clock on Cardiac Hypertrophy
    MARTIN ELLIOT YOUNG; Fiscal Year: 2013
    ..volume overload induce pathologic hypertrophy, pharmacological strategies for the clinical treatment of hypertrophic cardiomyopathy remain limited...
  46. The Ras/Mapk pathway in cardiovascular disease.
    Forest M White; Fiscal Year: 2013
    ..defects in Ptpn11 mutant NS, and found that, by contrast, a kinase-activated Raf1 allele (L613V) causes hypertrophic cardiomyopathy (HCM). Also as in humans, our LS model developed HCM...
  47. Myosin Va and VI Cargo Transport: In Vitro Model Systems
    David M Warshaw; Fiscal Year: 2013
    ..myo5a gene resulting in neurological impairment or immunodeficiency and myo6 gene mutations leading to hypertrophic cardiomyopathy, understanding the normal function of these motors has major implications for therapeutic management of ..
  48. Mechanisms of myopathy caused by mutations in the myosin rod
    LESLIE ANNE LEINWAND; Fiscal Year: 2010
    ..Over 150 mutations in the P MyHC motor domain have been found to cause hypertrophic cardiomyopathy (HCM) while 2 such mutations cause dilated cardiomyopathy (DCM)...
  49. A molecular study linking cTnT dynamics to genetic cardiomyopathy
    Jil C Tardiff; Fiscal Year: 2013
    Familial Hypertrophic Cardiomyopathy is a common and often devastating genetic cardiac disease...
  50. MYOSIN VI FUNCTION AND MECHANISM
    Kathryn G Miller; Fiscal Year: 2011
    ..Additionally, several Human deafness syndromes and associated hypertrophic cardiomyopathy are caused by mutations in myosin VI...
  51. Role of Myosin Binding Protein-C in the Regulation of Myocardial Contraction
    Samantha P Harris; Fiscal Year: 2013
    ..Mutations in cMyBP-C cause hypertrophic cardiomyopathy and heart failure in millions of people worldwide and under normal conditions cMyBP-C regulates ..
  52. Elucidating the Phosphatase-Independent Roles of PTPN11 in the Heart
    MARIA IRENE KONTARIDIS; Fiscal Year: 2013
    ..of Shp2 to induce aberrant signaling effects during cardiac development that lead to the onset of hypertrophic cardiomyopathy (HCM)...
  53. Nanoscale approaches to allelic silencing in myocardial disease states
    Euan Ashley; Fiscal Year: 2009
    DESCRIPTION (Provided by the applicant) Abstract: Hypertrophic cardiomyopathy is the most common inherited cardiovascular disease. It affects one in 500 of the population. It is the most frequent cause of sudden death in young people...
  54. Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD Syndrome
    MARIA IRENE KONTARIDIS; Fiscal Year: 2010
    ..Moreover, most LS patients develop a hypertrophic cardiomyopathy (HCM), which is unique to LS;few NS patients with Shp2 mutations develop HCM...
  55. Calcium Triggered Arrhythmias and Sudden Cardiac Arrest
    Richard L Moss; Fiscal Year: 2013
    ..cores are focused on (Core B) genotyping of patient cohorts exhibiting sudden cardiac arrest and/or hypertrophic cardiomyopathy, (Core C) molecular biology and development of animal models of cardiac disease, and (Core D) in vivo ..
  56. Molecular Basis of Myocardin Function in the Heart
    Michael S Parmacek; Fiscal Year: 2010
    ..importantly iv) mice harboring a cardiac-specific conditional ablation of the myocardin gene exhibit hypertrophic cardiomyopathy. Together these studies suggest the central hypothesis that will be examined in the proposed studies: ..
  57. Clinical prioritization of reported disease variants in asymptomatic individuals
    CHRISTOPHER CASSA; Fiscal Year: 2013
    ..g. hypertrophic cardiomyopathy and neurofibromatosis,) these disorders are collectively common, forming a long tail that confers ..
  58. Integration of Whole Genome Sequencing into Clinical Medicine
    Robert C Green; Fiscal Year: 2013
    ..Disease-Specific Genomic Medicine, 10 cardiologists and 100 of their patients presenting with familial hypertrophic cardiomyopathy (HCM) will be enrolled...
  59. 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...
  60. Mechanisms contributing to frataxin deficiency
    EDWARD GRABCZYK; Fiscal Year: 2009
    ..FRDA is a relentlessly progressive neurodegenerative disease with associated hypertrophic cardiomyopathy, diabetes and skeletal deformities. The ataxia is debilitating and the cardiomyopathy is often fatal...
  61. 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 ..
  62. 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...
  63. 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+ ..
  64. Molecular mechanisms of dilated cardiomyopathy
    Da Zhi Wang; Fiscal Year: 2013
    ..b>Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) often progress to systolic heart failure (HF), the leading cause of ..
  65. 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)...
  66. 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 ..
  67. 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)...
  68. 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...
  69. 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)...
  70. 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 ..
  71. MECHANISM OF VENTRICULAR OUTFLOW OBSTRUCTION IN IHSS
    Robert Levine; Fiscal Year: 1991
    ..The knowledge to be gained from these studies could help us tailor therapy for this complex and vexing clinical problem...