hypertrophic cardiomyopathy

Summary

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

Top Publications

  1. ncbi Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy
    Rory O'Hanlon
    Department of Cardiovascular Magnetic Resonance, Royal Brompton and Harefield NHS Foundation Trust, London, UK
    J Am Coll Cardiol 56:867-74. 2010
  2. 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
  3. 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
  4. 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
  5. ncbi 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
  6. ncbi 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
  7. ncbi Phenotypic diversity in hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 11:2499-506. 2002
  8. 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
  9. ncbi The genetics of hypertrophic cardiomyopathy: Teare redux
    H Watkins
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 94:1264-8. 2008
  10. ncbi Hypertrophic cardiomyopathy: from gene defect to clinical disease
    Man-Wei Chung
    Molecular Cardiology Group, Centenary Institute, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    Cell Res 13:9-20. 2003

Research Grants

  1. Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC Mutations
    Danuta Szczesna Cordary; Fiscal Year: 2010
  2. Arrhythmia Mechanisms in Sarcomeric Cardiomyopathies
    BJORN C contact KNOLLMANN; Fiscal Year: 2010
  3. The Role of the Proteasome in Troponin related Cardiomyopathies
    ALDRIN VERNO GOMES; Fiscal Year: 2010
  4. In Situ Sensing of Single Myosin Function in Hypertrophy Disease
    Thomas P Burghardt; Fiscal Year: 2010
  5. Cardiofaciocutaneous Syndrome & Noonan Syndrome Meeting
    Amy Roberts; Fiscal Year: 2006
  6. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2009
  7. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2010
  8. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2011
  9. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2010
  10. REGULATION OF NA,K ATPASE BY THE AH RECEPTOR
    Mary Walker; Fiscal Year: 2004

Detail Information

Publications242 found, 100 shown here

  1. ncbi Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy
    Rory O'Hanlon
    Department of Cardiovascular Magnetic Resonance, Royal Brompton and Harefield NHS Foundation Trust, London, UK
    J Am Coll Cardiol 56:867-74. 2010
    We investigated the significance of fibrosis detected by late gadolinium enhancement cardiovascular magnetic resonance for the prediction of major clinical events in hypertrophic cardiomyopathy (HCM).
  2. 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.
  3. 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...
  4. 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...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi Phenotypic diversity in hypertrophic cardiomyopathy
    Michael Arad
    Department of Genetics, Harvard Medical School, Boston, MA, USA
    Hum Mol Genet 11:2499-506. 2002
    In recent years, the main focus of human genetic studies on hypertrophic cardiomyopathy (HCM) switched from discovering novel genes and defining disease-causing mutations to studies of mutation distribution in disease populations...
  8. 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
    BACKGROUND: 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...
  9. ncbi The genetics of hypertrophic cardiomyopathy: Teare redux
    H Watkins
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
    Heart 94:1264-8. 2008
  10. ncbi Hypertrophic cardiomyopathy: from gene defect to clinical disease
    Man-Wei Chung
    Molecular Cardiology Group, Centenary Institute, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    Cell Res 13:9-20. 2003
    ..b>Hypertrophic cardiomyopathy (HCM) was the first cardiac disorder in which a genetic basis was identified and as such, has acted as ..
  11. ncbi Adiponectin acts as a positive indicator of left ventricular diastolic dysfunction in patients with hypertrophic cardiomyopathy
    Kazumasa Unno
    Department of Cardiology, Nagoya University Graduate School of Medicine, 65 Tsurumai, Showa, Nagoya 466 8550, Japan
    Heart 96:357-61. 2010
    ..Adiponectin is an adipose-derived plasma protein that exhibits beneficial actions on the heart. Recently, it was shown that adiponectin levels were elevated in patients with systolic heart failure...
  12. ncbi Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy
    Andreas Perrot
    Kardiologie am Campus Buch und Virchow Klinikum, Charité Universitätsmedizin Berlin und Max Delbrück Centrum für Molekulare Medizin, Wiltbergstrasse 50, 13125 Berlin, Germany
    J Mol Med (Berl) 83:468-77. 2005
    b>Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy...
  13. ncbi 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...
  14. ncbi Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy
    Ronen Rubinshtein
    Division of Cardiovascular Diseases, Department of Internal Medicine, Mayo Clinic, Rochester, MN 55905, USA
    Circ Heart Fail 3:51-8. 2010
    ..gadolinium enhancement (LGE) on contrast-enhanced magnetic resonance imaging (CE-MRI) of patients with hypertrophic cardiomyopathy (HCM) has been suggested to represent intramyocardial fibrosis and, as such, an adverse prognostic risk ..
  15. ncbi Assessment of regional systolic and diastolic dysfunction in familial hypertrophic cardiomyopathy using MR tagging
    Daniel B Ennis
    Department of Biomedical Engineering, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Magn Reson Med 50:638-42. 2003
    ..left ventricular (LV) dysfunction often significantly contribute to disabling symptoms in familial hypertrophic cardiomyopathy (FHC)...
  16. 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...
  17. ncbi Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives
    Paal Skytt Andersen
    Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark
    Hum Mutat 30:363-70. 2009
    The American Heart Association (AHA) recommends family screening for hypertrophic cardiomyopathy (HCM)...
  18. ncbi Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patients
    Lorenzo Monserrat
    Service of Cardiology, Juan Canalejo Hospital, , Spain
    J Am Coll Cardiol 42:873-9. 2003
    ..BACKGROUND: It has been suggested that NSVT is only of prognostic importance in patients with hypertrophic cardiomyopathy (HCM) when repetitive, prolonged, or associated with symptoms...
  19. ncbi Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans
    Andrew P Landstrom
    Mayo Medical School, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA
    J Mol Cell Cardiol 42:1026-35. 2007
    ..To this end, we explored JPH2 as a novel candidate gene for the pathogenesis of hypertrophic cardiomyopathy (HCM) in humans...
  20. ncbi Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy
    Stephan Waldmüller
    Institute for Heart and Circulation Research, University of Witten Herdecke, Dortmund, Germany
    Clin Chem 54:682-7. 2008
    Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease...
  21. ncbi Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathy
    Cristina Chimenti
    Cardio-Thoracic and Vascular Department, San Raffaele Hospital, Milan, Italy
    Circulation 110:1047-53. 2004
    ..FD) has been recognized as the cause of left ventricular hypertrophy in 6% of men with late-onset hypertrophic cardiomyopathy (HCM)...
  22. ncbi Sarcomeric genotyping in hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic College of Medicine, Rochester, Minn 55905, USA
    Mayo Clin Proc 80:463-9. 2005
    OBJECTIVE: To pool results from studies of patients with hypertrophic cardiomyopathy (HCM) to elucidate important phenotypic differences among genotypes...
  23. ncbi A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy
    Kathryn M Meurs
    Department of Veterinary Clinical Sciences, Washington State University College of Veterinary Medicine, Pullman, WA 99164, USA
    Genomics 90:261-4. 2007
    Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings...
  24. ncbi Collagen remodeling and cardiac dysfunction in patients with hypertrophic cardiomyopathy: the significance of type III and VI collagens
    M Kitamura
    The Second Department of Internal Medicine, School of Medicine, Kanazawa University, Japan
    Clin Cardiol 24:325-9. 2001
    ..interstitial fibrosis, the percentage of each type of collagen, and cardiac function in patients with hypertrophic cardiomyopathy (HC) has not been established...
  25. ncbi Relation of left ventricular chamber stiffness at rest to exercise capacity in hypertrophic cardiomyopathy
    Carlos Alberto Dumont
    Cardiology Division, Juan Canalejo Hospital, A Coruna, Spain
    Am J Cardiol 99:1454-7. 2007
    ..of exercise capacity is poorly predicted by conventional markers of disease severity in patients with hypertrophic cardiomyopathy (HC)...
  26. ncbi Myozenin 2 is a novel gene for human hypertrophic cardiomyopathy
    Adriana Osio
    Center for Cardiovascular Genetic Research, The Brown Foundation Institute of Molecular Medicine, University of Texas Health Sciences Center, Houston, TX 77030, USA
    Circ Res 100:766-8. 2007
    b>Hypertrophic cardiomyopathy (HCM) is a genetic disorder caused by mutations in sarcomeric proteins (excluding phenocopy). The causal genes in approximately one-third of the cases remain unknown...
  27. ncbi Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedema
    Vera Noelle
    University Children s Hospital, Oststrasse 21 25, 04317 Leipzig, Germany
    Eur J Pediatr 164:223-6. 2005
    ..Persistent congenital thrombocytopenia and hyperferritinaemia in the absence of infection were noted. Bone marrow cytology revealed a macrophage activation of unknown aetiology...
  28. ncbi Electrophysiologic manifestations of ventricular tachyarrhythmias provoking appropriate defibrillator interventions in high-risk patients with hypertrophic cardiomyopathy
    Yong Mei Cha
    Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
    J Cardiovasc Electrophysiol 18:483-7. 2007
    Our objective was to determine features of ventricular tachyarrhythmias triggering appropriate implantable cardioverter-defibrillator (ICD) interventions in hypertrophic cardiomyopathy (HCM).
  29. ncbi Images in cardiovascular Medicine. Magnetic resonance contrast enhancement of iatrogenic septal myocardial infarction in hypertrophic cardiomyopathy
    Burkhard Sievers
    Department of Cardiology and Angiology, Marien Hospital, University of Bochum, Germany
    Circulation 105:1018. 2002
  30. 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...
  31. ncbi Effect of biventricular pacing on left ventricular outflow tract pressure gradient in a patient with hypertrophic cardiomyopathy and normal interventricular conduction
    Baki Komsuoglu
    Department of Cardiology, Kocaeli University Medical Faculty, Kocaeli, Turkey
    J Cardiovasc Electrophysiol 17:207-9. 2006
    ..After biventricular pacing, LVOT gradient decreased to 20 mmHg. Biventricular pacing may be an alternative therapy for patients with HOCM...
  32. ncbi Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathy
    Golla N Prasad
    Int J Cardiol 109:432-3. 2006
    We report a rare case of a 65 year old male with mid left ventricular cavity obstruction which is an uncommon form of hypertrophic cardiomyopathy with cytogenetic analysis revealing novel mutations in mitochondrial nucleic acid.
  33. ncbi Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy
    Sara L Van Driest
    Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
    Circulation 108:445-51. 2003
    BACKGROUND: Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes...
  34. ncbi Dual chamber pacing in hypertrophic cardiomyopathy: long-term effects on diastolic function
    Sandro Betocchi
    Department of Clinical Medicine, Cardiovascular and Immunological Sciences, Federico II University, Naples, Italy
    Pacing Clin Electrophysiol 25:1433-40. 2002
    To assess the effects of chronic dual chamber pacing (DDD) on LV diastolic function in obstructive hypertrophic cardiomyopathy (HCM), 21 patients with obstructive HCM paced for refractory symptoms were studied at baseline and at 3 and 12 ..
  35. ncbi Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathy
    R Thaman
    The Heart Hospital, University College London, London, UK
    Heart 91:920-5. 2005
    ..To determine the frequency of systolic impairment (SI) and its impact on the natural history of hypertrophic cardiomyopathy (HCM). METHODS: 1080 patients (mean (SD) age 43 (15) years, 660 men) with HCM were evaluated...
  36. ncbi Successful treatment of end-stage hypertrophic cardiomyopathy with biventricular cardiac pacing
    B Pezzulich
    Cardiological Department, St Luigi Hospital, Orbassano, Turin, Italy
    Europace 7:388-91. 2005
    The beneficial use of biventricular pacing is reported in a patient with end-stage hypertrophic cardiomyopathy, intraventricular conduction delay and echocardiographic evidence of intraventricular dyssyncrony...
  37. ncbi Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathy
    Tsuyoshi Honda
    Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan
    Circ J 71:1263-7. 2007
    Patients with hypertrophic cardiomyopathy (HCM) frequently complain of angina-like symptoms in the absence of organic coronary stenoses. Coronary spasm might cause myocardial ischemia in HCM patients...
  38. ncbi Extent of late gadolinium enhancement detected by cardiovascular magnetic resonance correlates with the inducibility of ventricular tachyarrhythmia in hypertrophic cardiomyopathy
    Stephan Fluechter
    1st Medical Department, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
    J Cardiovasc Magn Reson 12:30. 2010
    Myocardial fibrosis is frequently identified in patients with hypertrophic cardiomyopathy (HCM)...
  39. ncbi Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac death
    J Shirani
    Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    J Am Coll Cardiol 35:36-44. 2000
    b>Hypertrophic cardiomyopathy (HCM) is a primary cardiac disease with a diverse clinical spectrum, in which many of the abnormal structural and pathophysiologic features are consequences of inappropriate left ventricular hypertrophy.
  40. ncbi An online locus-specific mutation database for familial hypertrophic cardiomyopathy
    D C Fung
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Camperdown, NSW, Australia
    Hum Mutat 14:326-32. 1999
    ..database was to provide an online resource that contains summarised and updated information on familial hypertrophic cardiomyopathy (FHC)-associated mutations and related data, for researchers and clinicians...
  41. ncbi Alterations of the architecture of subendocardial arterioles in patients with hypertrophic cardiomyopathy and impaired coronary vasodilator reserve: a possible cause for myocardial ischemia
    B Schwartzkopff
    Department of Cardiology, Pneumology and Angiology, Heinrich Heine University, Dusseldorf, Germany
    J Am Coll Cardiol 31:1089-96. 1998
    The study was designed to investigate the architecture of subendocardial arterioles of patients with hypertrophic cardiomyopathy (HCM) and angina pectoris with respect to coronary vasodilator reserve.
  42. ncbi Prognostic significance of left atrial volume dilatation in patients with hypertrophic cardiomyopathy
    Maria Angela Losi
    Department of Clinical Medicine, Cardiovascular and Immunological Sciences, Federico II University School of Medicine, Naples, Italy
    J Am Soc Echocardiogr 22:76-81. 2009
    To evaluate the prognostic role of left atrial (LA) volume in hypertrophic cardiomyopathy (HCM), LA volume was measured at baseline and during follow-up in 140 patients with HCM...
  43. ncbi The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardium
    Axel Neulen
    Institute of Vegetative Physiology, University of Cologne, Robert Koch Strasse 39, 50931 Cologne, Germany
    Basic Res Cardiol 104:751-60. 2009
    ..investigates the effects of the first mutation of troponin C (hcTnC(L29Q)) found in a patient with hypertrophic cardiomyopathy (HCM) on force-pCa relations and the interplay with phosphorylation of sarcomeric PKA substrates...
  44. ncbi Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathy
    K M Meurs
    Department of Clinical Sciences, Washington State University, Pullman, WA 99164, USA
    J Vet Intern Med 23:840-3. 2009
    b>Hypertrophic cardiomyopathy (HCM) is the most common heart disease in cats. Causative mutations have been identified in the Maine Coon (MC) and Ragdoll breed in the cardiac myosin binding protein C gene (MYBPC3)...
  45. ncbi The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy
    Lucie Carrier
    Institute of Experimental and Clinical Pharmacology and Toxicology, Cardiovascular Research Center, University Medical Center Hamburg Eppendorf, Martinistrasse 52, D 20246 Hamburg, Germany
    Cardiovasc Res 85:330-8. 2010
    ..Most forms of hypertrophic cardiomyopathy (HCM) are familial with an autosomal-dominant mode of inheritance...
  46. ncbi Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiency
    G F Cox
    Department of Medicine, Children s Hospital, Boston, Massachusetts 02115, USA
    J Pediatr 133:247-53. 1998
    ..outcome of a 5-year-old girl with VLCAD deficiency who was first seen at 5 months of age with severe hypertrophic cardiomyopathy, hepatomegaly, encephalopathy, and hypotonia...
  47. ncbi Identification of high risk patients with hypertrophic cardiomyopathy in a northern Greek population
    Georgios K Efthimiadis
    First Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece
    Cardiovasc Ultrasound 7:37. 2009
    The percentage of hypertrophic cardiomyopathy (HCM) patients who are in high risk for Sudden Death (SD) constitutes only a minority of all HCM population but the incidence of SD in this subset is high (at least 5% annually)...
  48. ncbi Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene
    B Yu
    Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, NSW, Australia
    J Med Genet 35:205-10. 1998
    DNA studies in familial hypertrophic cardiomyopathy (FHC) have shown that it is caused by mutations in genes coding for proteins which make up the muscle sarcomere...
  49. ncbi Implications of hypertrophic cardiomyopathy transmitted by sperm donation
    Barry J Maron
    Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation and Abbott Northwestern Hospital, Minneapolis, Minnesota 55407, USA
    JAMA 302:1681-4. 2009
    ..The unintended consequence in which genetic diseases are unwittingly transmitted to offspring is an underrecognized public health issue not previously prioritized by US Food and Drug Administration guidelines...
  50. ncbi Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessment
    Maria Angela Losi
    Department of Clinical Medicine, Cardiovascular and Immunological Sciences, University Federico II, Naples, Italy
    Cardiovasc Ultrasound 8:7. 2010
    b>Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge...
  51. ncbi Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed cats
    G Wess
    Clinic of Small Animal Medicine, Ludwig Maximilians University, Munich, Germany
    J Vet Intern Med 24:527-32. 2010
    b>Hypertrophic cardiomyopathy (HCM) is an inherited autosomal dominant trait in cats. The A31P single nucleotide polymorphism (SNP) in the myosin binding protein C 3 gene is thought to be the causative mutation in Maine Coon cats...
  52. ncbi Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy
    R Anan
    Department of Genetics, Harvard Medical School, Boston, Massachusetts 02115
    J Clin Invest 93:280-5. 1994
    ..heavy chain (MHC) gene missense mutations, Phe513Cys, Gly716Arg, and Arg719Trp, which cause familial hypertrophic cardiomyopathy (FHC) are described...
  53. ncbi Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy
    H Watkins
    Cardiology Division, Brigham and Women s Hospital, Boston, MA
    Am J Hum Genet 53:1180-5. 1993
    The origins of the beta cardiac myosin heavy-chain (MHC) gene missense mutations that cause familial hypertrophic cardiomyopathy (FHC) in 14 families have been evaluated...
  54. ncbi Prevention of hypertrophic cardiomyopathy-related deaths: theory and practice
    P Elliott
    The Heart Hospital, London, UK
    Heart 94:1269-75. 2008
    ..heart failure and stroke remains a major aim of clinical management in what is now called hypertrophic cardiomyopathy. In this paper, we review the underlying mechanisms of death and discuss the strengths and weaknesses ..
  55. ncbi How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance
    Tjeerd Germans
    Department of Cardiology, VU University Medical Center, Amsterdam, The Netherlands
    J Cardiovasc Magn Reson 12:13. 2010
    ..We aimed to confirm the presence of functional abnormalities using cardiovascular magnetic resonance (CMR), and to investigate if sensitive functional assessment could be employed to identify carriers...
  56. ncbi Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy
    K Elliott
    Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, United Kingdom
    J Biol Chem 275:22069-74. 2000
    ..Recently, specific missense mutations of the cTnI gene (TNNI3) have been shown to cause familial hypertrophic cardiomyopathy (HCM)...
  57. ncbi The future in hypertrophic cardiomyopathy: important clues and potential advances from an understanding of the genotype phenotype relationship
    W J McKenna
    Department of Cardiological Sciences, St George s Hospital Medical School, London, UK
    Ital Heart J 1:17-20. 2000
    b>Hypertrophic cardiomyopathy is a familial heart muscle disorder caused by sarcomeric contractile protein gene abnormalities, nine of which have been recognised to date...
  58. ncbi Phenotypic spectrum and clinical characteristics of apical hypertrophic cardiomyopathy: multicenter echo-Doppler study
    Eui Young Choi
    Yonsei University College of Medicine, Seoul, Republic of Korea
    Cardiology 110:53-61. 2008
    The aim of this study was to define the phenotypic spectrum of apical hypertrophic cardiomyopathy (ApHCM) and clinical characteristics pertaining to identified subtypes.
  59. ncbi Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathy
    Iacopo Olivotto
    Regional Referral Center for Myocardial Diseases, Florence, Italy
    J Am Coll Cardiol 47:1043-8. 2006
    ..whether the entity of microvascular dysfunction, assessed by positron emission tomography (PET), predicts the long-term development of left ventricular (LV) remodeling and systolic dysfunction in hypertrophic cardiomyopathy (HCM).
  60. ncbi Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy
    Shuxia Wang
    Department of Cardiology, Sino German Laboratory for Molecular Medicine, Key Laboratory for Clinical Cardiovascular Genetics of Ministry of Education, Peking Union Medical College, Beijing, China
    Clin Cardiol 31:114-8. 2008
    ..No data are available on survival analysis and longitudinal evolution of patients with gene mutations of beta-myosin heavy chain (MYH7) and myosin binding protein C (MYBPC3) in Chinese...
  61. ncbi Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone
    Susan Lowey
    Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
    J Biol Chem 283:20579-89. 2008
    The R403Q mutation in the beta-myosin heavy chain (MHC) was the first mutation to be linked to familial hypertrophic cardiomyopathy (FHC), a primary disease of heart muscle...
  62. ncbi Value of real time three-dimensional echocardiography in patients with hypertrophic cardiomyopathy: comparison with two-dimensional echocardiography and magnetic resonance imaging
    Letícia S Bicudo
    Heart Institute InCor, University of Sao Paulo Medical School, Sao Paulo, Brazil
    Echocardiography 25:717-26. 2008
    ..We sought to determine the value of RT3DE for evaluating patients with hypertrophic cardiomyopathy (HCM), in comparison with cardiac magnetic resonance imaging (MRI).
  63. ncbi Hypertrophic obstructive cardiomyopathy in the era of cardiac MRI
    Muhammad U Mustafa
    Department of Cardiology, Newark Beth Israel Medical Center, Newark, New Jersey 07039, USA
    J Invasive Cardiol 16:340. 2004
  64. ncbi Alcohol septal ablation after failed surgical myectomy
    Dominique Joyal
    Division of Cardiology, Loyola University Medical Center, Maywood, Illinois 60153, USA
    Catheter Cardiovasc Interv 69:999-1002. 2007
    ....
  65. ncbi Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy
    Hee-Hwa Ho
    Division of Cardiology, Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, China
    Am J Med 116:19-23. 2004
    BACKGROUND: Data on the phenotypical pattern and natural history of hypertrophic cardiomyopathy in Chinese patients are very limited...
  66. ncbi Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: Acute results and three-year noninvasive follow-up in 18 patients
    Hangyuan Guo
    Department of Cardiology, Huayu Hospital, China Medical University, Zhejiang, China
    Can J Cardiol 20:779-82. 2004
    ..To study the acute results and long-term clinical course after percutaneous transluminal septal myocardial ablation (PTSMA) in symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM)...
  67. ncbi Predominant, severe right ventricular outflow tract obstruction in hypertrophic cardiomyopathy
    R Krecki
    II Chair of Cardiology, Medical University of Lodz, Bieganski Hospital, Kniaziewicza 1/5, 91-347 Lodz, Poland
    Circulation 116:e551-3. 2007
  68. ncbi Percutaneous transseptal myocardial ablation with wire (PTSAW): a new technique
    Vijay Trehan
    Department of Cardiology, G P Pant Hospital, New Delhi-110002, India
    J Invasive Cardiol 16:204-6. 2004
    ....
  69. ncbi Regional dyssynergy of the interventricular septum after septal artery occlusion in hypertrophic obstructive cardiomyopathy: use of quantitative Doppler tissue and strain rate imaging
    Partho P Sengupta
    GB Pant Hospital, New Delhi, India
    J Am Soc Echocardiogr 17:384-6. 2004
    ..Myocardial velocities improved across the entire septum; however, strain rate imaging showed the presence of severe regional dyssynergy...
  70. ncbi New approach to septal ablation: glue (cyanoacrylate) septal ablation
    Ali Oto
    Hacettepe University, Faculty of Medicine, Department of Cardiology, Altindag, Ankara, Turkey
    Catheter Cardiovasc Interv 69:1021-5. 2007
    ..This case report describes a new way of septal ablation with glue (cyanoacrylate) in a HOCM patient who has extensive collateral to posterior descending coronary artery which precludes alcohol ablation...
  71. ncbi Biphasic left ventricular outflow and its mechanism in hypertrophic obstructive cardiomyopathy
    Heidi M Conklin
    Division of Cardiology, Oregon Health and Science University, Portland 97239, USA
    J Am Soc Echocardiogr 17:375-83. 2004
    ..quot; The late systolic increase in flow is related to mitral-septal separation. Resolution of systolic anterior motion occurs despite a persistent LVOT pressure gradient, implying a role for forces other than pressure differences...
  72. ncbi Successful catheter ablation for incessant ventricular tachycardia in a patient with hypertrophic cardiomyopathy
    Yasuo Okumura
    Division of Cardiology, Department of Medicine, Nihon University School of Medicine, Tokyo, Japan
    Circ J 71:1164-8. 2007
    ..Transthoracic echocardiography showed hypertrophic cardiomyopathy. Coronary angiography was normal and left ventriculography showed neither obstruction in the left ..
  73. ncbi Clinical practice. Hypertrophic obstructive cardiomyopathy
    Rick A Nishimura
    Division of Cardiovascular Diseases and Internal Medicine, Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA
    N Engl J Med 350:1320-7. 2004
  74. ncbi Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysm
    Ertugrul Ercan
    Clinic of Cardiology, Central Hospital, Izmir
    Anadolu Kardiyol Derg 4:105. 2004
  75. ncbi Extended septal myectomy for hypertrophic obstructive cardiomyopathy with anomalous mitral papillary muscles or chordae
    Kenji Minakata
    Division of Cardiovascular Surgery, Mayo Clinic, Rochester, Minn, USA
    J Thorac Cardiovasc Surg 127:481-9. 2004
    ....
  76. ncbi Conduction system abnormalities in patients with obstructive hypertrophic cardiomyopathy following septal reduction interventions
    Jian Xin Qin
    Department of Cardiovascular Medicine, Cleveland, Ohio 44195, USA
    Am J Cardiol 93:171-5. 2004
    ..septal myocardial ablation (PTSMA) and myectomy on the conduction system in patients with obstructive hypertrophic cardiomyopathy (HC)...
  77. ncbi Echo-guided percutaneous septal ablation for symptomatic hypertrophic obstructive cardiomyopathy: 7 years of experience
    Lothar Faber
    Department of Cardiology, Heart and Diabetes Center North Rhine Westphalia, Ruhr University Bochum, GeorgStr 11, D 32545 Bad Oeynhausen, Germany
    Eur J Echocardiogr 5:347-55. 2004
    ....
  78. ncbi Intracoronary myocardial contrast echocardiography in a patient with drug refractory hypertrophic obstructive cardiomyopathy revealing extensive myocardium at risk for infarction with alcohol septal ablation
    Daniel Monakier
    Toronto General Hospital, University Health Network, Toronto, Canada
    J Invasive Cardiol 16:482-4. 2004
  79. ncbi Pathomorphological variants of midventricular obstruction of interventricular septum during hypertrophic cardiomyopathy
    V D Rozenberg
    Department of General Pathology and Pathomorphology, Institute of Regional Pathology and Pathomorphology, Siberian Division of the Russian Academy of Medical Sciences, Novosibirsk, Russia
    Bull Exp Biol Med 137:614-8. 2004
    ..abnormalities of intracardiac hemodynamics determining dissociation between the echocardiographic and pathomorphological diagnostic data and underlying the leading elements of patho- and thanatogenesis of hypertrophic cardiomyopathy.
  80. ncbi A patient with hypertrophic obstructive cardiomyopathy presenting with left ventricular apical ballooning syndrome
    Wissam A Jaber
    Division of Cardiovascular Disease, The Mayo Clinic, 200 First Street, S.W, Rochester, MN 55905, USA
    J Invasive Cardiol 18:510-2. 2006
  81. ncbi Pressure gradient response after alcohol septal ablation in hypertrophic obstructive cardiomyopathy
    Josef Veselka
    Kardiol Pol 64:1161-2; author reply 1162. 2006
  82. ncbi One-year follow-up of percutaneous septal ablation for symptomatic hypertrophic obstructive cardiomyopathy in 312 patients: predictors of hemodynamic and clinical response
    L Faber
    Department of Cardiology, Heart and Diabetes Center NRW, Ruhr University Bochum, GeorgStr 11, 32545, Bad Oeynhausen, Germany
    Clin Res Cardiol 96:864-73. 2007
    ....
  83. ncbi Evaluation of cardiac resynchronization therapy in drug-resistant dilated-phase hypertrophic cardiomyopathy by means of Tc-99m sestamibi ECG-gated SPECT
    Shinro Matsuo
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Tukinowa cho, Seta, Otsu, Shiga 520 2192, Japan
    Ann Nucl Med 20:643-7. 2006
    ..35 (EDV/sec). Cardiac resynchronization therapy may improve cardiac function as well as dyssynchrony, which could be evaluated non-invasively and accurately by ECG-gated SPECT...
  84. ncbi Intracardiac echocardiography guidance during percutaneous transluminal septal myocardial ablation in patients with obstructive hypertrophic cardiomyopathy
    Chiara Pedone
    Bellaria Hospital, Cardiology Department, Bologna, Italy
    Int J Cardiovasc Intervent 7:134-7. 2005
    ..9+/-20.4 mmHg to 7.8+/-7.9 mmHg (p<0.0001). CONCLUSIONS: In this initial experience ICE monitoring during PTSMA was safe and provided high quality and continuous imaging of the treated segment of the septum during the whole procedure...
  85. ncbi Acute decompensation of hypertrophic obstructive cardiomyopathy secondary to A-V disassociation: successful treatment with a combination of alcohol septal ablation and permanent pacemaker
    Sameer Rohatgi
    Cardiovascular Division, Hospital of the University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    J Interv Cardiol 18:401-6. 2005
    ..This case report is also a unique description of alcohol septal ablation being performed emergently to improve hemodynamics and the urgent implantation of a permanent pacemaker to return A-V synchrony...
  86. ncbi Impaired coronary circulation in patients with apical hypertrophic cardiomyopathy: noninvasive analysis by transthoracic Doppler echocardiography
    Ken Yoshida
    Department of Internal Medicine and Cardiology, Osaka City University Medical School, Osaka, Japan
    Echocardiography 22:723-9. 2005
    ..We designed this study to examine the characteristics of coronary circulation in patients with apical hypertrophic cardiomyopathy (ApHCM) using noninvasive transthoracic Doppler echocardiography (TTDE)...
  87. ncbi Catheter-based septal ablation for symptomatic hypertrophic obstructive cardiomyopathy: follow-up results of the TASH-registry of the German Cardiac Society
    L Faber
    Kardiologische Klinik Herz- und Diabeteszentrum NRW, , Georgstrasse 11, 32545 Bad Oeynhausen, Germany
    Z Kardiol 94:516-23. 2005
    ..At mid-term follow-up, symptoms, left atrial size and septal thickness are reduced, and outflow gradients are further improved as compared to the acute result...
  88. ncbi [Percutaneous transluminal septal myocardial ablation: early results and long-term follow-up]
    Łukasz Tekieli
    Klinika Chorób Serca i Naczyń, Krakowski Szpital Specjalistyczny im Jana Pawła II, Uniwersytet Jagiellonski, Collegium Medicum, Krakow
    Przegl Lek 63:628-32. 2006
    ..The aim of our study was to analyze early results, complications and long-term follow-up in patients after PTSMA...
  89. ncbi Creatine depletion and altered fatty acid metabolism in diseased human hearts: clinical investigation using 1H magnetic resonance spectroscopy and 123I BMIPP myocardial scintigraphy
    I Nakae
    Department of Cardiovascular and Respiratory Medicine, Shiga University of Medical Science, Seta, Otsu, Japan
    Acta Radiol 48:436-43. 2007
    ..In the heart, the creatine kinase system plays an important role in energy reserves, and myocardial energy production essentially depends upon fatty acid metabolism...
  90. ncbi Hypertrophic cardiomyopathy with progression from apical hypertrophy to asymmetrical septal hypertrophy: a case report
    Hiroaki Kitaoka
    Cardiology Division, Department of Medicine and Geriatrics, Kochi Medical School, Kohasu, Oko cho, Nankoku, Kochi 783 8505
    J Cardiol 45:155-9. 2005
    ..confined to the most distal portion of the left ventricle, which is a typical feature of apical hypertrophic cardiomyopathy. Ten years later, he was again admitted for the evaluation of chest pain...
  91. ncbi Detection of patients with hypertrophic cardiomyopathy at risk for paroxysmal atrial fibrillation during sinus rhythm by P-wave dispersion
    Sedat Kose
    Gulhane Military Medical Academy, Department of Cardiology, Ankara, Turkey
    Clin Cardiol 26:431-4. 2003
    Paroxysmal atrial fibrillation (PAF) in hypertrophic cardiomyopathy (HCM) is associated with poor prognosis. Previous studies have shown good correlation between P-wave dispersion (Pd) and occurrence of PAF...
  92. ncbi Comparison of percutaneous transluminal septal myocardial ablation versus septal myectomy for the treatment of patients with hypertrophic obstructive cardiomyopathy--a meta analysis
    Zhiyu Zeng
    Center for Arrhythmia Diagnosis and Treatment, Cardiovascular Institute and Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Int J Cardiol 112:80-4. 2006
    ..The effects of percutaneous transluminal septal myocardial ablation (PTSMA) with septal myectomy in patients with hypertrophic obstructive cardiomyopathy (HOCM) are not thoroughly compared...
  93. ncbi Partial myocardial fibrosis in hypertrophic cardiomyopathy demonstrated by 18F-fluoro-deoxyglucose positron emission tomography and multislice computed tomography
    Nobusada Funabashi
    Int J Cardiol 107:284-6. 2006
  94. ncbi Usefulness of real-time three-dimensional echocardiography for evaluation of myectomy in patients with hypertrophic cardiomyopathy
    Jian Xin Qin
    Cleveland Clinic Found, Cleveland, OH
    Am J Cardiol 94:964-6. 2004
    Real-time 3-dimensional echocardiography was performed in 10 patients with obstructive hypertrophic cardiomyopathy (HC) before and after myectomy and in 6 controls...
  95. ncbi Myocardial perfusion after percutaneous transluminal septal myocardial ablation as assessed by myocardial contrast echocardiography in patients with hypertrophic obstructive cardiomyopathy
    Chiara Pedone
    Bellaria Hospital, Cardiology, Bologna, Italy
    J Am Soc Echocardiogr 19:982-6. 2006
    ..A patchy perfusion pattern was seen in all the patients with HOCM either before or after the procedure. In patients with HOCM percutaneous transluminal septal myocardial ablation improves, but does not normalize microvascular function...
  96. ncbi Difficult cases in heart failure. Percutaneous transluminal septal myocardial ablation in the management of hypertrophic obstructive cardiomyopathy
    Georges Feghali
    Heart and Vascular Institute, Ochsner Clinic Foundation, New Orleans, LA 70121, USA
    Congest Heart Fail 9:343-6. 2003
    b>Hypertrophic cardiomyopathy is a complex genetic condition with a heterogeneous clinical course...
  97. ncbi Comparison of myocardial fatty acid metabolism with left ventricular function and perfusion in cardiomyopathies: by 123I-BMIPP SPECT and 99mTc-tetrofosmin electrocardiographically gated SPECT
    Chunlei Zhao
    Department of Radiology, Asahikawa Medical College and Hospital, Japan
    Ann Nucl Med 17:541-8. 2003
    To investigate myocardial fatty acid metabolism and its relationship with left ventricular (LV) function and perfusion in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM).
  98. ncbi Echocardiographic features of pigs with spontaneous hypertrophic cardiomyopathy
    Jyh-Hung Lin
    Cardiovascular Research Center, Department of Comparative Medicine, Pig Research Institute, Taiwan, Miaoli, ROC
    Comp Med 52:238-42. 2002
    ..b>Hypertrophic cardiomyopathy (HCM) is a primary myocardial disease that has variable manifestations because interactions between the ..
  99. ncbi Comparison of left ventricular diastolic function in obstructive hypertrophic cardiomyopathy in patients undergoing percutaneous septal alcohol ablation versus surgical myotomy/myectomy
    Marta Sitges
    Cleveland Clinic Found, OH
    Am J Cardiol 91:817-21. 2003
    ..are effective treatments to relieve left ventricular (LV) outflow tract obstruction in obstructive hypertrophic cardiomyopathy (HC)...
  100. ncbi Early remodelling of left ventricle and improvement of myocardial performance in patients after percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathy
    Josef Veselka
    Division of Cardiac Surgery, Cardiology Section, University Hospital Motol, Vuvalu 84, 5, 150 00, Prague, Czech Republic
    Int J Cardiol 88:27-32. 2003
    ....
  101. ncbi A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients
    Tetsuo Konno
    Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan
    J Am Coll Cardiol 41:781-6. 2003
    We studied the clinical features of hypertrophic cardiomyopathy (HCM) caused by a novel mutation in the myosin binding protein-C (MyBP-C) gene in patients and family members of Japanese descent.

Research Grants92

  1. Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC Mutations
    Danuta Szczesna Cordary; Fiscal Year: 2010
    Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease originating from mutations in genes that encode for the major contractile proteins of the heart, including the ventricular myosin regulatory (RLC) and ..
  2. Arrhythmia Mechanisms in Sarcomeric Cardiomyopathies
    BJORN C contact KNOLLMANN; Fiscal Year: 2010
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
  3. The Role of the Proteasome in Troponin related Cardiomyopathies
    ALDRIN VERNO GOMES; Fiscal Year: 2010
    ..Mutations in cardiac troponin T (cTnT) are responsible for ~7% of all familial hypertrophic cardiomyopathy (FHC) cases...
  4. In Situ Sensing of Single Myosin Function in Hypertrophy Disease
    Thomas P Burghardt; Fiscal Year: 2010
    ..The cardiac myosin heavy chain (MHC) and both of its light chains (MLCs) harbor familial hypertrophic cardiomyopathy (FHC)-linked mutations. MHC mutants are hypothesized to disrupt specific transduction pathways...
  5. 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 ..
  6. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2009
    ..in the striated muscle system; in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
  7. Role of actin domains in force generation in myocardium
    Masataka Kawai; Fiscal Year: 2010
    ..contraction in the striated muscle system;in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
  8. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2011
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  9. Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathy
    John P Konhilas; Fiscal Year: 2010
    ..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
  10. 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+ ..
  11. ANISOTROPY IN MYOCARDIAL ULTRASOUND
    James Miller; Fiscal Year: 2009
    ..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
  12. ANISOTROPY IN MYOCARDIAL ULTRASOUND
    JAMES GEGAN MILLER; Fiscal Year: 2010
    ..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
  13. 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)...
  14. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2010
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  15. Troponin and myosin in regulation of muscle contraction and heart disease
    Zenon Grabarek; Fiscal Year: 2011
    A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
  16. Spectroscopy of myosin light chain domain dynamics
    Osha Roopnarine; Fiscal Year: 2007
    ..and to understand how this is altered in muscle disease, focusing on LC mutations that cause familial hypertrophic cardiomyopathy (FHC)...
  17. 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 ..
  18. 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)...
  19. 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...
  20. THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINS
    LARRY TOBACMAN; Fiscal Year: 2003
    DESCRIPTION (adapted from the applicant's description): Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal dominant disorder caused by mutations in any of several genes encoding the proteins of the cardiac contractile apparatus...
  21. Molecular mechanics of mutant cardiac myosin
    Jeffrey R Moore; Fiscal Year: 2010
    The cardiac hypertrophy, myofibrillar disarray and sudden death caused by familial hypertrophic cardiomyopathy (FHC) results from autosomal dominant mutations in sarcomeric proteins...
  22. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2009
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  23. cMyBPC and Regulation of Myocardial Contraction
    Samantha Harris; Fiscal Year: 2009
    ..in cardiac myosin binding protein-C (cMyBPC) account for nearly half of all instances of inherited hypertrophic cardiomyopathy and cMyBP-C is phosphorylated in response to inotropic stimuli, but neither the mechanisms by which ..
  24. CD36 and Intestinal Fat Absorption
    NADA ABUMRAD; Fiscal Year: 2005
    ..In humans, CD36 deficiency was linked to defects of myocardial FA uptake and to hypertrophic cardiomyopathy. This proposal is based on the hypothesis that CD36 plays an important role in lipid absorption in the ..
  25. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2002
    ..of cardiac muscle contraction by troponin and to determine its role in the genesis of familial hypertrophic cardiomyopathy (FHC). There are two major projects: In I...
  26. MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONIN
    James Potter; Fiscal Year: 2006
    ..in the regulation of cardiac muscle contraction by troponin and to determine its role in familial hypertrophic cardiomyopathy (FHC). SPECIFIC AIM 1. Cardiac TnT (CTnT) Isoforms and the Regulation of Contraction...
  27. Cardiac Troponin in Health and Disease
    James Potter; Fiscal Year: 2009
    ..current proposal will determine the effect of mutations in cTnT, cTnI and cTnC, known to cause familial hypertrophic cardiomyopathy (FHC or HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM) on the biochemical, ..
  28. Troponin T mutations and Sudden Cardiac Death
    Bjorn Knollmann; Fiscal Year: 2006
    Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding cardiac contractile proteins, and an important cause of Sudden Cardiac Death (SCD)...
  29. Cardiac Troponin in Health and Disease
    JAMES DOUGLAS POTTER; Fiscal Year: 2010
    ..current proposal will determine the effect of mutations in cTnT, cTnI and cTnC, known to cause familial hypertrophic cardiomyopathy (FHC or HCM), dilated cardiomyopathy (DCM) and restrictive cardiomyopathy (RCM) on the biochemical, ..