Genomes and Genes
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).
Publications324 found, 100 shown here
- Cardiac fibrosis in mice with hypertrophic cardiomyopathy is mediated by non-myocyte proliferation and requires Tgf-βPolakit Teekakirikul
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Clin Invest 120:3520-9. 2010Mutations in sarcomere protein genes can cause hypertrophic cardiomyopathy (HCM), a disorder characterized by myocyte enlargement, fibrosis, and impaired ventricular relaxation...
- Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophyJenifer 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. 2003We 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 ..
- Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathyRory O'Hanlon
Department of Cardiovascular Magnetic Resonance, Royal Brompton and Harefield NHS Foundation Trust, London, UK
J Am Coll Cardiol 56:867-74. 2010We investigated the significance of fibrosis detected by late gadolinium enhancement cardiovascular magnetic resonance for the prediction of major clinical events in hypertrophic cardiomyopathy (HCM).
- Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathyCarolyn Y Ho
Cardiovascular Division, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark
Circ Cardiovasc Genet 2:314-21. 2009Genetic testing identifies sarcomere mutation carriers (G+) before clinical diagnosis of hypertrophic cardiomyopathy (HCM), allowing characterization of initial disease manifestations...
- Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathyF 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 ..
- The histologic basis of late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathyJames C C Moon
Centre for Advanced Magnetic Resonance in Cardiology CAMRIC, London, United Kingdom
J Am Coll Cardiol 43:2260-4. 2004We sought to identify the histologic basis of myocardial late gadolinium enhancement cardiovascular magnetic resonance (CMR) in hypertrophic cardiomyopathy (HCM).
- Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathyBhaswati 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...
- Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomereL 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...
- Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathyOliver Bruder
Department of Cardiology and Angiology, Elisabeth Hospital, Essen, Germany
J Am Coll Cardiol 56:875-87. 2010We sought to establish the prognostic value of a comprehensive cardiovascular magnetic resonance (CMR) examination in risk stratification of hypertrophic cardiomyopathy (HCM) patients.
- Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathyH 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 ..
- Prevalence of idiopathic hypertrophic cardiomyopathy in China: a population-based echocardiographic analysis of 8080 adultsYubao Zou
Sino German Laboratory for Molecular Medicine, Beijing, China
Am J Med 116:14-8. 2004To determine the prevalence of hypertrophic cardiomyopathy in China.
- Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathyH Watkins
Howard Hughes Medical Institute, Boston, MA
N Engl J Med 332:1058-64. 1995Familial hypertrophic cardiomyopathy can be caused by mutations in the genes for beta cardiac myosin heavy chain, alpha-tropomyosin, or cardiac troponin T...
- Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathyIacopo Olivotto
Regional Referral Center for Myocardial Diseases, Azienda Ospedaliera Universitaria Careggi and Università degli Studi, Florence, Italy
Mayo Clin Proc 83:630-8. 2008To determine the influence of a positive genetic test for hypertrophic cardiomyopathy (HCM) on clinical outcome.
- Hypertrophic cardiomyopathy: an important global diseaseBarry J Maron
Am J Med 116:63-5. 2004
- Hypertrophic cardiomyopathy: a systematic reviewBarry J Maron
Minneapolis Heart Institute Foundation, 920 E 28th St, Suite 60, Minneapolis, MN 55407, USA
JAMA 287:1308-20. 2002Throughout 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 ..
- A homoplasmic mitochondrial transfer ribonucleic acid mutation as a cause of maternally inherited hypertrophic cardiomyopathyRobert 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. 2003The 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.
- Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathyCarolyn Y Ho
Cardiovascular Division, Brigham and Women s Hospital, Boston, MA 02115, USA
N Engl J Med 363:552-63. 2010Myocardial 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...
- Occurrence and frequency of arrhythmias in hypertrophic cardiomyopathy in relation to delayed enhancement on cardiovascular magnetic resonanceA Selcuk Adabag
Division of Cardiology, Veterans Affairs Medical Center, Minneapolis, Minnesota 55417, USA
J Am Coll Cardiol 51:1369-74. 2008Our aim was to determine whether myocardial fibrosis, detected by cardiovascular magnetic resonance (CMR), represents an arrhythmogenic substrate in hypertrophic cardiomyopathy (HCM).
- Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonanceMartin 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).
- 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 cardiomyopathyCrystal M Ripplinger
Department of Biomedical Engineering, Washington University, St Louis, MO 63130, USA
Circ Res 101:1049-57. 2007Human 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...
- Biomarkers of pathophysiology in hypertrophic cardiomyopathy: implications for clinical management and prognosisFrancisco 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 ..
- Influence of the pattern of hypertrophy on left ventricular twist in hypertrophic cardiomyopathyB 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...
- Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyM 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 ..
- Mutations profile in Chinese patients with hypertrophic cardiomyopathyLei 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. 2005There are more than 1 million patients with hypertrophic cardiomyopathy (HCM) in China, but the genetic basis is presently unknown.
- Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethoninJ 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)...
- Expression profiling of cardiac genes in human hypertrophic cardiomyopathy: insight into the pathogenesis of phenotypesD S Lim
Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, Texas 77030, USA
J Am Coll Cardiol 38:1175-80. 2001The goal of this study was to identify genes upregulated in the heart in human patients with hypertrophic cardiomyopathy (HCM).
- Association between regional ventricular function and myocardial fibrosis in hypertrophic cardiomyopathy assessed by speckle tracking echocardiography and delayed hyperenhancement magnetic resonance imagingZoran B Popovic
Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
J Am Soc Echocardiogr 21:1299-305. 2008The relationship among myocardial fibrosis, segmental strains, and hypertrophic cardiomyopathy (HCM) in patients with preserved left ventricular ejection fraction is not known...
- Echocardiography-guided genetic testing in hypertrophic cardiomyopathy: septal morphological features predict the presence of myofilament mutationsJosepha Binder
Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic College of Medicine, Rochester, MN 55905, USA
Mayo Clin Proc 81:459-67. 2006To examine the relationship among age, septal morphological subtype, and presence of hypertrophic cardiomyopathy (HCM)-associated myofilament mutations.
- Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathyJ C Tardiff
Department of Molecular, Cellular and Developmental Biology, University of Colorado, Boulder, Colorado 80309, USA
J Clin Invest 104:469-81. 1999Multiple mutations in cardiac troponin T (cTnT) can cause familial hypertrophic cardiomyopathy (FHC)...
- Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathyJ Erdmann
Department of Internal Medicine II Cardiology, University of Regensburg, Regensburg, Germany
Clin Genet 64:339-49. 2003Defects 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...
- Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathyPaule 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...
- Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filamentsPaul Robinson
Department of Cardiovascular Medicine, University of Oxford, United Kingdom
Circ Res 101:1266-73. 2007Dilated cardiomyopathy and hypertrophic cardiomyopathy (HCM) can be caused by mutations in thin filament regulatory proteins of the contractile apparatus...
- 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 troponinAldrin 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...
- Yield of genetic testing in hypertrophic cardiomyopathySara 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. 2005To determine the clinical parameters of hypertrophic cardiomyopathy (HCM) that correlated significantly with the presence of an identifiable sarcomeric mutation.
- Echocardiography in hypertrophic cardiomyopathy: the role of conventional and emerging technologiesLuis C Afonso
Division of Cardiology, Wayne State University, Detroit, Michigan, USA
JACC Cardiovasc Imaging 1:787-800. 2008b>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 ..
- Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletionHouman Ashrafian
Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
Trends Genet 19:263-8. 2003Genetic analysis of hypertrophic cardiomyopathy (HCM), a mendelian form of cardiac hypertrophy, indicates that the primary defect is in sarcomeric function...
- Genome-wide mapping of modifier chromosomal loci for human hypertrophic cardiomyopathyE Warwick Daw
Department of Epidemiology, MD Anderson Cancer Center, Houston, TX 77030, USA
Hum Mol Genet 16:2463-71. 2007b>Hypertrophic cardiomyopathy (HCM) is a disease of mutant sarcomeric proteins (except for phenocopy)...
- Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathyL 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. 1993b>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)...
- Clinical profile and significance of delayed enhancement in hypertrophic cardiomyopathyMartin S Maron
Hypertrophic Cardiomyopathy Center, Division of Cardiology, Tufts Medical Center, Boston, Massachusetts 02111, USA
Circ Heart Fail 1:184-91. 2008Contrast-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.
- Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathySteve R Ommen
Division of Cardiovascular Diseases, Mayo Clinic College of Medicine, Rochester, Minnesota 55905, USA
J Am Coll Cardiol 46:470-6. 2005This study sought to determine the impact of surgical myectomy on long-term survival in hypertrophic cardiomyopathy (HCM).
- Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscleK Poetter
Inherited Cardiac Diseases Section, NHLBI, NIH Bethesda, Maryland 20892 1650, USA
Nat Genet 13:63-9. 1996....
- Hypertrophic cardiomyopathyCarolyn Y Ho
Cardiovascular Division, Brigham and Women s Hospital, 75 Francis Street, Boston, MA 02115, USA
Heart Fail Clin 6:141-59. 2010Important insights into the molecular basis of hypertrophic cardiomyopathy and related diseases have been gained by studying families with inherited cardiac hypertrophy...
- Delayed hyperenhancement in magnetic resonance imaging of left ventricular hypertrophy caused by aortic stenosis and hypertrophic cardiomyopathy: visualisation of focal fibrosisK 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).
- Molecular genetics and pathogenesis of hypertrophic cardiomyopathyA J Marian
Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, TX, USA
Minerva Med 92:435-51. 2001Advances in molecular genetics of hypertrophic cardiomyopathy (HCM) have led to identification of mutations in 11 genes coding for sarcomeric proteins...
- Cardiac magnetic resonance detection of myocardial scarring in hypertrophic cardiomyopathy: correlation with histopathology and prevalence of ventricular tachycardiaDeborah H Kwon
Heart and Vascular Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
J Am Coll Cardiol 54:242-9. 2009In 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 ..
- Cardiac ankyrin repeat protein gene (ANKRD1) mutations in hypertrophic cardiomyopathyTakuro Arimura
Department of Molecular Pathogenesis, Medical Research Institute, Tokyo Medical and Dental University, Tokyo, Japan
J Am Coll Cardiol 54:334-42. 2009The purpose of this study was to explore a novel disease gene for hypertrophic cardiomyopathy (HCM) and to evaluate functional alterations caused by mutations.
- Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in miceYouchun 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...
- Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutationsFrancesca Girolami
Unit for Genetic Diagnosis, Careggi University Hospital, Florence, Italy
J Am Coll Cardiol 55:1444-53. 2010The aim of this study was to describe the clinical profile associated with triple sarcomere gene mutations in a large hypertrophic cardiomyopathy (HCM) cohort.
- Utility of cardiac magnetic resonance imaging in the diagnosis of hypertrophic cardiomyopathyCarsten Rickers
Department of Radiology, Fairview University Medical Center, Minneapolis, MN, USA
Circulation 112:855-61. 2005Two-dimensional echocardiography is currently the standard test for the clinical diagnosis of hypertrophic cardiomyopathy (HCM)...
- Mitochondrial DNA haplogroups in Spanish patients with hypertrophic cardiomyopathyMónica G Castro
Genética Molecular Instituto de Estudios Nefrológicos, Hospital Central de Asturias Maternidad 33006, Oviedo, Spain
Int J Cardiol 112:202-6. 2006Mutations in mtDNA have been implicated in the development of hypertrophic cardiomyopathy (HCM), including cases from families with a maternal transmission...
- Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathyA Kimura
Department of Tissue Physiology, Tokyo Medical and Dental University, Japan
Nat Genet 16:379-82. 1997b>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...
- Genetic basis of hypertrophic cardiomyopathy: from bench to the clinicsRonny Alcalai
Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
J Cardiovasc Electrophysiol 19:104-10. 2008b>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...
- Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathyJ Martijn Bos
Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota 55905, USA
J Am Coll Cardiol 54:201-11. 2009Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively...
- The molecular genetic basis for hypertrophic cardiomyopathyA J Marian
Section of Cardiology, Department of Medicine, Baylor College of Medicine, Houston, TX 77030, USA
J Mol Cell Cardiol 33:655-70. 2001b>Hypertrophic cardiomyopathy (HCM), a relatively common disease, is diagnosed clinically by unexplained cardiac hypertrophy and pathologically by myocyte hypertrophy, disarray, and interstitial fibrosis...
- Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathyKevin M Harris
Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, 920 E 28th St, Suite 60, Minneapolis, Minnesota 55407, USA
Circulation 114:216-25. 2006End 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.
- Familial hypertrophic cardiomyopathy: from mutations to functional defectsG 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. 1998b>Hypertrophic cardiomyopathy is characterized by left and/or right ventricular hypertrophy, which is usually asymmetric and involves the interventricular septum...
- Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counsellingJ Ingles
J Med Genet 42:e59. 2005To report the frequency of single and multiple gene mutations in an Australian cohort of patients with hypertrophic cardiomyopathy (HCM).
- Coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathyFranco 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...
- Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderlyHideshi Niimura
Howard Hughes Medical Institute and Department of Genetics, Harvard Medical School, Boston, MA 02115, USA
Circulation 105:446-51. 2002b>Hypertrophic cardiomyopathy, a familial myocardial condition caused by sarcomere protein mutations, is usually recognized by early adulthood...
- Deletion of GSK-3beta in mice leads to hypertrophic cardiomyopathy secondary to cardiomyoblast hyperproliferationRisto 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...
- Targeted inhibition of p38 MAPK promotes hypertrophic cardiomyopathy through upregulation of calcineurin-NFAT signalingJulian 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...
- Myocardial collagen turnover in hypertrophic cardiomyopathyRaffaella Lombardi
Department of Clinical Medicine, Cardiovascular and Immunological Sciences, Federico II University School of Medicine, Naples, Italy
Circulation 108:1455-60. 2003Myocardial 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.
- Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathyB C Knollmann
Department of Medicine, Georgetown University Medical Center, Washington, DC, USA
Trends Cardiovasc Med 11:206-12. 2001Mutations in cardiac Troponin T (TnT) are responsible for approximately 15% of all cases of familial hypertrophic cardiomyopathy (FHC)...
- 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 athletesD 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 (..
- Serum cardiac troponin I is related to increased left ventricular wall thickness, left ventricular dysfunction, and male gender in hypertrophic cardiomyopathyToru Kubo
Department of Medicine and Geriatrics, Kochi Medical School, Kochi, Japan
Clin Cardiol 33:E1-7. 2010Serum 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.
- 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 proteinC Redwood
Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Circ Res 86:1146-52. 2000Familial 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...
- Timing and significance of exercise-induced left ventricular outflow tract pressure gradients in hypertrophic cardiomyopathyStefano 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...
- Interactions between sleep disordered breathing and atrial fibrillation in patients with hypertrophic cardiomyopathyTomas Konecny
Mayo Clinic, Rochester, Minnesota, USA
Am J Cardiol 105:1597-602. 2010The 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...
- Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathyH Watkins
Cardiology Division, Brigham and Women s Hospital, Boston, MA
N Engl J Med 326:1108-14. 1992Familial hypertrophic cardiomyopathy is characterized by a variable degree of myocardial hypertrophy and a wide range of symptoms...
- Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifierEliecer 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)...
- Echocardiographic-determined septal morphology in Z-disc hypertrophic cardiomyopathyJeanne 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. 2006b>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...
- Syndactyly and long QT syndrome (CaV1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathyShirley M Lo-A-Njoe
Department of Pediatric Cardiology, Leiden University Medical Center, The Netherlands
Heart Rhythm 2:1365-8. 2005
- Abnormally thickened papillary muscle resulting in dynamic left ventricular outflow tract obstruction: an unusual presentation of hypertrophic cardiomyopathyBethany A Austin
Department of Cardiovascular Medicine, Heart and Vascular Institute, Cleveland Clinic, Cleveland, OH 44195, USA
J Am Soc Echocardiogr 22:105.e5-6. 2009We 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 ..
- Myocardial storage of chondroitin sulfate-containing moieties in Costello syndrome patients with severe hypertrophic cardiomyopathyAleksander 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...
- Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathyJ F Forissier
Unité de Recherches 153 de l INSERM, Paris, France
Circulation 94:3069-73. 1996Familial hypertrophic cardiomyopathy is a phenotypically and genetically heterogeneous disease...
- Left atrial remodelling in hypertrophic cardiomyopathy: relation with exercise capacity and biochemical markers of tissue strain and remodellingD 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 ..
- Evaluation of left ventricular outflow tract gradient during treadmill exercise and in recovery period in orthostatic position, in patients with hypertrophic cardiomyopathyRita Miranda
Hospital Garcia de Orta, Cardiology Department, Almada, Portugal
Cardiovasc Ultrasound 6:19. 2008Left ventricular outflow tract obstruction is an independent predictor of adverse outcome in hypertrophic cardiomyopathy (HCM)...
- Doppler tissue imaging: regional myocardial function in hypertrophic cardiomyopathy and in athlete's heartNuno Cardim
Department of Cardiology, Hospital Pulido Valente, Lisbon, Portugal
J Am Soc Echocardiogr 16:223-32. 2003The 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 ..
- Clinical course of hypertrophic cardiomyopathy with survival to advanced ageBarry 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. 2003This study was designed to clarify and resolve the clinical profile of older patients with hypertrophic cardiomyopathy (HCM).
- Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish familiesJuan 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...
- Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathyW 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. 1999Excitation-contraction coupling in cardiac muscle of familial hypertrophic cardiomyopathy (FHC) remains poorly understood, despite the fact that the genetic alterations are well defined...
- A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetranceJ A Moolman
Department of Experimental Cardiology, Max Planck Institute for Physiological and Clinical Research, Bad Nauheim, Germany
Circulation 101:1396-402. 2000b>Hypertrophic cardiomyopathy is a myocardial disorder resulting from inherited sarcomeric dysfunction...
- Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiographyJ 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...
- Cardiovascular magnetic resonance signs of ischemia in hypertrophic cardiomyopathyPaola Melacini
Department of Cardiac, Thoracic and Vascular Sciences, University of Padua Medical School, Padua, Italy
Int J Cardiol 128:364-73. 2008Recurrent 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 ..
- Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic CardiomyopathyMaria 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. 2010MyBPC3 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...
- Hypertrophic cardiomyopathy in the community: why we should careFranco Cecchi
Referral Centre for Cardiomyopathies, Cardiology Department, Careggi University Hospital, Florence, Italy
Nat Clin Pract Cardiovasc Med 2:324-5. 2005
- The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish populationP Jääskeläinen
Department of Medicine, University of Kuopio, Finland
J Am Coll Cardiol 32:1709-16. 1998The 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 ..
- Ventricular arrhythmia following alcohol septal ablation for obstructive hypertrophic cardiomyopathyPeter 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, ..
- A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathyFrancesca Girolami
Genetic Diagnostic Unit, Azienda Ospedaliero Universitaria Careggi, Florence, Italy
J Cardiovasc Med (Hagerstown) 7:601-7. 2006Mutations causing hypertrophic cardiomyopathy (HCM) have been described in nine different genes of the sarcomere...
- Prevention of cardiac hypertrophy by atorvastatin in a transgenic rabbit model of human hypertrophic cardiomyopathyVinitha Senthil
Department of Medicine, Baylor College of Medicine, One Baylor Plaza, 519D, Houston, TX 77030, USA
Circ Res 97:285-92. 2005Cardiac hypertrophy, a major determinant of morbidity and mortality in hypertrophic cardiomyopathy (HCM), is considered a secondary phenotype and potentially preventable...
- Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathyI Rayment
Institute for Enzyme Research, Graduate School, University of Wisconsin, Madison 53705 4098, USA
Proc Natl Acad Sci U S A 92:3864-8. 1995In 10-30% of hypertrophic cardiomyopathy kindreds, the disease is caused by > 29 missense mutations in the cardiac beta-myosin heavy chain (MYH7) gene...
- Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathyJ C Moolman
Department of Medical Physiology and Biochemistry, University of Stellenbosch, Tygerberg, Republic of South Africa
Hum Mutat 6:197-8. 1995
- Hypertrophic cardiomyopathyPerry Elliott
University College London, London, UK
Lancet 363:1881-91. 2004b>Hypertrophic cardiomyopathy is a common genetically transmitted disease, defined clinically by the presence of unexplained left ventricular hypertrophy...
- Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriersMichelle Michels
Department of Cardiology, Thoraxcenter, Erasmus MC Rotterdam, The Netherlands
Eur Heart J 30:2593-8. 2009To investigate the outcome of cardiac evaluation and the risk stratification for sudden cardiac death (SCD) in asymptomatic hypertrophic cardiomyopathy (HCM) mutation carriers.
- Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathyAdam J Saltzman
Department of Medicine, Columbia University, New York, NY, USA
Circ Res 106:1549-52. 2010The 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.
- Impact of intraoperative transesophageal echocardiography in the surgical management of hypertrophic cardiomyopathySteve R Ommen
Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA
Am J Cardiol 90:1022-4. 2002
- Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I geneH Kokado
Second Department of Internal Medicine, School of Medicine, Kanazawa University, Kanazawa, Japan
Circulation 102:663-9. 2000Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes that code proteins in the sarcomere...
- First-pass MR imaging in the assessment of perfusion impairment in patients with hypertrophic cardiomyopathy and the Asp175Asn mutation of the alpha-tropomyosin genePetri 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 ..
- 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. 1999Dual-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.
- Abnormalities in T2-weighted cardiovascular magnetic resonance images of hypertrophic cardiomyopathy: regional distribution and relation to late gadolinium enhancement and severity of hypertrophyHassan 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. 2008To explore if focal T2 abnormalities accompany late gadolinium enhancement (LGE) lesions in hypertrophic cardiomyopathy (HCM).
- Left ventricular twist mechanics in patients with apical hypertrophic cardiomyopathy: assessment with 2D speckle tracking echocardiographyS 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...
- Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathyJohn P Konhilas; Fiscal Year: 2013..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
- Arrhythmia Mechanisms in Sarcomeric CardiomyopathiesBjorn C Knollmann; Fiscal Year: 2012Project Summary/Abstract Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
- 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 ..
- Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathyJohn P Konhilas; Fiscal Year: 2013..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
- Molecular mechanics of mutant cardiac myosinJeffrey 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...
- IGF::OT::IGFVivian 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 ..
- Using Genetics For Early Phenotyping &Prevention of Hypertrophic CardiomyopathyChristine E Seidman; Fiscal Year: 2013..b>Hypertrophic cardiomyopathy (HCM) provides a paradigm for fulfilling this opportunity...
- Molecular Basis of Noonan Syndrome and Related DisorderBruce D Gelb; Fiscal Year: 2013..that include short stature, mental retardation and cardiac abnormalities such as pulmonic stenosis and hypertrophic cardiomyopathy (HCM)...
- Myosin ELC, a novel therapeutic target for FHCDanuta 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 ..
- Functional Consequences of FHC-linked RLC Mutations.Danuta Szczesna-Cordary; Fiscal Year: 2012Familial 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...
- HCMR Novel Markers of Prognosis in Hypertrophic CardiomyopathyStefan Neubauer; Fiscal Year: 2013DESCRIPTION (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...
- Hypertrophy Regression with N-Acetylcysteine in Hypertrophic CardiomyopathyAli J Marian; Fiscal Year: 2013The 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 ..
- The Role of the Proteasome in Troponin related CardiomyopathiesALDRIN VERNO GOMES; Fiscal Year: 2013..Mutations in cardiac troponin T (cTnT) are responsible for ~7% of all familial hypertrophic cardiomyopathy (FHC) cases...
- Genetics and Molecular Biology of Striated Muscle MyosinSanford I Bernstein; Fiscal Year: 2013..For Aim 2, we will examine the mechanistic basis of myosin dysfunction caused by two hypertrophic cardiomyopathy mutations...
- ROLE OF AUTOPHAGIC FLUX IN CARDIAC MYOCYTE VIABILITYAbhinav 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...
- Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC MutationsDanuta Szczesna-Cordary; Fiscal Year: 2012Familial 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 ..
- CARDIAC CONTRACTILE KINETICSMichael 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 ..
- The role of Raf-MEK signaling in the pathogenesis of hypertrophic cardiomyopathyJASON BECKER; Fiscal Year: 2013DESCRIPTION (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...
- MITOCHONDRIAL FUSION FACTORS AND CARDIOMYOPATHYGerald 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 ..
- Integrative Approach to Divergent Remodeling in Thin Filament CardiomyopathiesJil C Tardiff; Fiscal Year: 2013DESCRIPTION (provided by applicant): Hypertrophic Cardiomyopathy (HCM) is a relatively common disorder, affecting 1/500 individuals...
- A TG model for functional effects of FHC mutations in b-cardiac myosinSusan 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...
- Mechanism of SRF-N-mediated Cardiac SuppressionJiang 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 ..
- Onset and Progression of Contractile Dysfunction in Hypertrophic CardiomyopathyPETER 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 ..
- Dissecting Genetic Mechanisms of Hypertrophic Cardiomyopathy by ENU MutagenesisFerhaan Ahmad; Fiscal Year: 2012..b>Hypertrophic cardiomyopathy (HCM), the most common heritable cardiovascular disorder (prevalence 1:500), has been associated with ..
- The Role of Galectin-3 in Cardiac Remodeling and Heart FailureJENNIFER 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...
- Structural Comparison of Strongly-Bound Actomyosin StatesDorit 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 ..
- In Situ Sensing of Single Myosin Function in Hypertrophy DiseaseThomas 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...
- INTEGRATED MECHANISMS OF CARDIAC MALADAPTATIONR 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 ..
- Human Induced Pluripotent Cell Models of Pediatric Cardiac DisordersIhor 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 ..
- Discovery &Application of Proteomics-Based Biomarkers of Early Myocardial InjuryMarc 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 ..
- Cardiolipin and the mitochondrial ADP/ATP carrier interactomeSTEVEN 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 ..
- Acute and Chronic Regulation of 20S Proteasome Function by cAMP-Dependent KinaseSARAH 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 ..
- Troponin and myosin in regulation of muscle contraction and heart diseaseZenon Grabarek; Fiscal Year: 2012A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
- Cardiac Myosin Binding Protein-C: Structure, Function, and RegulationDavid 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, ..
- Role of DLD in oxidative stress-induced cardiac diseaseRACHAEL 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 ..
- 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)...
- Myosin Binding Protein C structure-function relationships in the failing heartPieter 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 (..
- Murine 3D Engineered Tissue Model of Human MYBPC3 MutationsJOHN 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...
- Metabolomic Biomarkers of Early Myocardial InjuryMarc 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 ..
- Sarcomere Length Shortening and the Destabilization of the Ca2+ Control System inLeighton T Izu; Fiscal Year: 2012..Mice expressing genetically defined familiar hypertrophic cardiomyopathy (FHC) and spontaneous hypertensive rats will be examined...
- Development of a Hypertrophic Cardiomyopathy ConsortiumTheodore P Abraham; Fiscal Year: 2012b>Hypertrophic cardiomyopathy (HCM) is the commonest inherited cardiovascular disorder occurring in 1 in 500 persons worldwide...
- Molecular dynamics studies of muscle proteinsEDWARD F PATE; Fiscal Year: 2010..study mutations in the coiled-coil regulatory protein, tropomyosin, which are associated with familial hypertrophic cardiomyopathy (FHC)...
- Therapeutic Microlesioning by Contrast Echocardiography for Myocardial ReductionOliver D Kripfgans; Fiscal Year: 2013DESCRIPTION (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...
- TROPONIN MODULATION IN HEART FAILUREBeata M Wolska; Fiscal Year: 2013..or attenuate the development of hypertrophy and dysfunction in transgenic mouse models of familial hypertrophic cardiomyopathy (HCM)...
- Influence of the Cardiomyocyte Circadian Clock on Cardiac HypertrophyMARTIN ELLIOT YOUNG; Fiscal Year: 2013..volume overload induce pathologic hypertrophy, pharmacological strategies for the clinical treatment of hypertrophic cardiomyopathy remain limited...
- 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...
- Myosin Va and VI Cargo Transport: In Vitro Model SystemsDavid 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 ..
- Mechanisms of myopathy caused by mutations in the myosin rodLESLIE 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)...
- A molecular study linking cTnT dynamics to genetic cardiomyopathyJil C Tardiff; Fiscal Year: 2013Familial Hypertrophic Cardiomyopathy is a common and often devastating genetic cardiac disease...
- MYOSIN VI FUNCTION AND MECHANISMKathryn G Miller; Fiscal Year: 2011..Additionally, several Human deafness syndromes and associated hypertrophic cardiomyopathy are caused by mutations in myosin VI...
- Role of Myosin Binding Protein-C in the Regulation of Myocardial ContractionSamantha 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 ..
- Elucidating the Phosphatase-Independent Roles of PTPN11 in the HeartMARIA IRENE KONTARIDIS; Fiscal Year: 2013..of Shp2 to induce aberrant signaling effects during cardiac development that lead to the onset of hypertrophic cardiomyopathy (HCM)...
- Nanoscale approaches to allelic silencing in myocardial disease statesEuan Ashley; Fiscal Year: 2009DESCRIPTION (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...
- Molecular Pathogenesis of the Cardiomyogenic Defects in LEOPARD SyndromeMARIA 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...
- Calcium Triggered Arrhythmias and Sudden Cardiac ArrestRichard 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 ..
- Molecular Basis of Myocardin Function in the HeartMichael 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: ..
- Clinical prioritization of reported disease variants in asymptomatic individualsCHRISTOPHER CASSA; Fiscal Year: 2013..g. hypertrophic cardiomyopathy and neurofibromatosis,) these disorders are collectively common, forming a long tail that confers ..
- Integration of Whole Genome Sequencing into Clinical MedicineRobert 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...
- MOTOR FUNCTION OF CARDIAC B MYOSIN MUTANTSMitsuo Ikebe; Fiscal Year: 1999DESCRIPTION: Familial hypertrophic cardiomyopathy (HCM) is an autosomal dominant inherited disease characterized by ventricular hypertrophy, myofibriller disarray and a spectrum of clinical symptoms...
- Mechanisms contributing to frataxin deficiencyEDWARD 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...
- Cardiofaciocutaneous Syndrome & Noonan Syndrome MeetingAmy 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 ..
- GENE EXPRESSION DURING DROSOPHILA MYOGENESISAllen 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...
- REGULATION OF NA,K ATPASE BY THE AH RECEPTORMary 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+ ..
- Molecular mechanisms of dilated cardiomyopathyDa Zhi Wang; Fiscal Year: 2013..b>Hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM) often progress to systolic heart failure (HF), the leading cause of ..
- Spectroscopy of myosin light chain domain dynamicsOsha Roopnarine; Fiscal Year: 2010..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
- Modifier Genes of Familial Hypertrophic CardiomyopathyALI MARIAN; Fiscal Year: 2005The 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 ..
- EFFECT OF CARDIOMYOPATHY MUTATIONS ON MYOSIN AND ACTINKATHLEEN 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)...
- FHC Tn Mutations: Functional Consequences & MechanismsJames Potter; Fiscal Year: 2005Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disease, which has been associated with mutations in almost every major cardiac sarcomeric protein...
- CARDIAC MYOSIN--MOLECULAR STRUCTURE/FUNCTIONNorman Alpert; Fiscal Year: 1999..structure compromises its mechanical function, leading to sudden death in patients with familial hypertrophic cardiomyopathy (FHCM)...
- ELECTROPHYSIOLOGY OF TRANSGENIC CARDIOMYOPATHIC MICECharles 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 ..
- MECHANISM OF VENTRICULAR OUTFLOW OBSTRUCTION IN IHSSRobert Levine; Fiscal Year: 1991..The knowledge to be gained from these studies could help us tailor therapy for this complex and vexing clinical problem...