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).
Publications242 found, 100 shown here
- 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).
- 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.
- 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...
- 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...
- 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...
- Phenotypic diversity in hypertrophic cardiomyopathyMichael Arad
Department of Genetics, Harvard Medical School, Boston, MA, USA
Hum Mol Genet 11:2499-506. 2002In 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...
- 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. 2006BACKGROUND: 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...
- The genetics of hypertrophic cardiomyopathy: Teare reduxH Watkins
Department of Cardiovascular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, UK
Heart 94:1264-8. 2008
- Hypertrophic cardiomyopathy: from gene defect to clinical diseaseMan-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 ..
- Adiponectin acts as a positive indicator of left ventricular diastolic dysfunction in patients with hypertrophic cardiomyopathyKazumasa 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...
- Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathyAndreas 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. 2005b>Hypertrophic cardiomyopathy (HCM) is a frequent, autosomal-dominant cardiac disease and manifests predominantly as left ventricular hypertrophy...
- 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...
- Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathyRonen 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 ..
- Assessment of regional systolic and diastolic dysfunction in familial hypertrophic cardiomyopathy using MR taggingDaniel 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)...
- 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...
- Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesPaal Skytt Andersen
Department of Clinical Biochemistry, Statens Serum Institute, Copenhagen, Denmark
Hum Mutat 30:363-70. 2009The American Heart Association (AHA) recommends family screening for hypertrophic cardiomyopathy (HCM)...
- Non-sustained ventricular tachycardia in hypertrophic cardiomyopathy: an independent marker of sudden death risk in young patientsLorenzo 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...
- Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humansAndrew 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...
- Array-based resequencing assay for mutations causing hypertrophic cardiomyopathyStephan Waldmüller
Institute for Heart and Circulation Research, University of Witten Herdecke, Dortmund, Germany
Clin Chem 54:682-7. 2008Dissecting the complex genetic basis of hypertrophic cardiomyopathy (HCM) may be key to both better understanding and optimally managing this most prevalent genetic cardiovascular disease...
- Prevalence of Fabry disease in female patients with late-onset hypertrophic cardiomyopathyCristina 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)...
- Sarcomeric genotyping in hypertrophic cardiomyopathySara 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. 2005OBJECTIVE: To pool results from studies of patients with hypertrophic cardiomyopathy (HCM) to elucidate important phenotypic differences among genotypes...
- A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathyKathryn M Meurs
Department of Veterinary Clinical Sciences, Washington State University College of Veterinary Medicine, Pullman, WA 99164, USA
Genomics 90:261-4. 2007Familial hypertrophic cardiomyopathy (HCM) is a primary myocardial disease with a prevalence of 1 in 500 in human beings...
- Collagen remodeling and cardiac dysfunction in patients with hypertrophic cardiomyopathy: the significance of type III and VI collagensM 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...
- Relation of left ventricular chamber stiffness at rest to exercise capacity in hypertrophic cardiomyopathyCarlos 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)...
- Myozenin 2 is a novel gene for human hypertrophic cardiomyopathyAdriana 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. 2007b>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...
- Unusual presentation of congenital disorder of glycosylation type 1a: congenital persistent thrombocytopenia, hypertrophic cardiomyopathy and hydrops-like aspect due to marked peripheral oedemaVera 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...
- Electrophysiologic manifestations of ventricular tachyarrhythmias provoking appropriate defibrillator interventions in high-risk patients with hypertrophic cardiomyopathyYong Mei Cha
Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN 55905, USA
J Cardiovasc Electrophysiol 18:483-7. 2007Our objective was to determine features of ventricular tachyarrhythmias triggering appropriate implantable cardioverter-defibrillator (ICD) interventions in hypertrophic cardiomyopathy (HCM).
- Images in cardiovascular Medicine. Magnetic resonance contrast enhancement of iatrogenic septal myocardial infarction in hypertrophic cardiomyopathyBurkhard Sievers
Department of Cardiology and Angiology, Marien Hospital, University of Bochum, Germany
Circulation 105:1018. 2002
- 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...
- Effect of biventricular pacing on left ventricular outflow tract pressure gradient in a patient with hypertrophic cardiomyopathy and normal interventricular conductionBaki 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...
- Novel mitochondrial DNA mutations in a rare variety of hypertrophic cardiomyopathyGolla N Prasad
Int J Cardiol 109:432-3. 2006We 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.
- Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathySara L Van Driest
Department of Molecular Pharmacology and Experimental Therapeutics, Mayo Clinic, Rochester, Minn 55905, USA
Circulation 108:445-51. 2003BACKGROUND: Thin filament mutations are reported to cause approximately 20% of cases of hypertrophic cardiomyopathy (HCM), and they have been associated with specific phenotypes...
- Dual chamber pacing in hypertrophic cardiomyopathy: long-term effects on diastolic functionSandro Betocchi
Department of Clinical Medicine, Cardiovascular and Immunological Sciences, Federico II University, Naples, Italy
Pacing Clin Electrophysiol 25:1433-40. 2002To 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 ..
- Prevalence and clinical significance of systolic impairment in hypertrophic cardiomyopathyR 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...
- Successful treatment of end-stage hypertrophic cardiomyopathy with biventricular cardiac pacingB Pezzulich
Cardiological Department, St Luigi Hospital, Orbassano, Turin, Italy
Europace 7:388-91. 2005The beneficial use of biventricular pacing is reported in a patient with end-stage hypertrophic cardiomyopathy, intraventricular conduction delay and echocardiographic evidence of intraventricular dyssyncrony...
- Impact of delta-sarcoglycan gene polymorphism on the occurrence of coronary spastic angina in Japanese patients with hypertrophic cardiomyopathyTsuyoshi Honda
Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan
Circ J 71:1263-7. 2007Patients 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...
- Extent of late gadolinium enhancement detected by cardiovascular magnetic resonance correlates with the inducibility of ventricular tachyarrhythmia in hypertrophic cardiomyopathyStephan Fluechter
1st Medical Department, Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany
J Cardiovasc Magn Reson 12:30. 2010Myocardial fibrosis is frequently identified in patients with hypertrophic cardiomyopathy (HCM)...
- Morphology and significance of the left ventricular collagen network in young patients with hypertrophic cardiomyopathy and sudden cardiac deathJ Shirani
Department of Medicine, Albert Einstein College of Medicine, Bronx, New York 10461, USA
J Am Coll Cardiol 35:36-44. 2000b>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.
- An online locus-specific mutation database for familial hypertrophic cardiomyopathyD 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...
- Alterations of the architecture of subendocardial arterioles in patients with hypertrophic cardiomyopathy and impaired coronary vasodilator reserve: a possible cause for myocardial ischemiaB Schwartzkopff
Department of Cardiology, Pneumology and Angiology, Heinrich Heine University, Dusseldorf, Germany
J Am Coll Cardiol 31:1089-96. 1998The 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.
- Prognostic significance of left atrial volume dilatation in patients with hypertrophic cardiomyopathyMaria 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. 2009To 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...
- The cardiac troponin C mutation Leu29Gln found in a patient with hypertrophic cardiomyopathy does not alter contractile parameters in skinned murine myocardiumAxel 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...
- Analysis of 8 sarcomeric candidate genes for feline hypertrophic cardiomyopathy mutations in cats with hypertrophic cardiomyopathyK M Meurs
Department of Clinical Sciences, Washington State University, Pullman, WA 99164, USA
J Vet Intern Med 23:840-3. 2009b>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)...
- The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathyLucie 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...
- Reversal of severe hypertrophic cardiomyopathy and excellent neuropsychologic outcome in very-long-chain acyl-coenzyme A dehydrogenase deficiencyG 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...
- Identification of high risk patients with hypertrophic cardiomyopathy in a northern Greek populationGeorgios K Efthimiadis
First Cardiology Department, AHEPA University Hospital, Thessaloniki, Greece
Cardiovasc Ultrasound 7:37. 2009The 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)...
- Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C geneB Yu
Department of Molecular and Clinical Genetics, Royal Prince Alfred Hospital, Sydney, NSW, Australia
J Med Genet 35:205-10. 1998DNA 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...
- Implications of hypertrophic cardiomyopathy transmitted by sperm donationBarry 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...
- Echocardiography in patients with hypertrophic cardiomyopathy: usefulness of old and new techniques in the diagnosis and pathophysiological assessmentMaria Angela Losi
Department of Clinical Medicine, Cardiovascular and Immunological Sciences, University Federico II, Naples, Italy
Cardiovasc Ultrasound 8:7. 2010b>Hypertrophic cardiomyopathy (HCM) is one of the most common inherited cardiomyopathy. The identification of patients with HCM is sometimes still a challenge...
- Association of A31P and A74T polymorphisms in the myosin binding protein C3 gene and hypertrophic cardiomyopathy in Maine Coon and other breed catsG Wess
Clinic of Small Animal Medicine, Ludwig Maximilians University, Munich, Germany
J Vet Intern Med 24:527-32. 2010b>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...
- Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathyR 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...
- Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathyH Watkins
Cardiology Division, Brigham and Women s Hospital, Boston, MA
Am J Hum Genet 53:1180-5. 1993The origins of the beta cardiac myosin heavy-chain (MHC) gene missense mutations that cause familial hypertrophic cardiomyopathy (FHC) in 14 families have been evaluated...
- Prevention of hypertrophic cardiomyopathy-related deaths: theory and practiceP 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 ..
- How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonanceTjeerd 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...
- Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathyK 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)...
- The future in hypertrophic cardiomyopathy: important clues and potential advances from an understanding of the genotype phenotype relationshipW J McKenna
Department of Cardiological Sciences, St George s Hospital Medical School, London, UK
Ital Heart J 1:17-20. 2000b>Hypertrophic cardiomyopathy is a familial heart muscle disorder caused by sarcomeric contractile protein gene abnormalities, nine of which have been recognised to date...
- Phenotypic spectrum and clinical characteristics of apical hypertrophic cardiomyopathy: multicenter echo-Doppler studyEui Young Choi
Yonsei University College of Medicine, Seoul, Republic of Korea
Cardiology 110:53-61. 2008The aim of this study was to define the phenotypic spectrum of apical hypertrophic cardiomyopathy (ApHCM) and clinical characteristics pertaining to identified subtypes.
- Relevance of coronary microvascular flow impairment to long-term remodeling and systolic dysfunction in hypertrophic cardiomyopathyIacopo 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).
- Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathyShuxia 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...
- Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backboneSusan Lowey
Department of Molecular Physiology and Biophysics, University of Vermont, Burlington, VT 05405, USA
J Biol Chem 283:20579-89. 2008The 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...
- Value of real time three-dimensional echocardiography in patients with hypertrophic cardiomyopathy: comparison with two-dimensional echocardiography and magnetic resonance imagingLetícia 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).
- Hypertrophic obstructive cardiomyopathy in the era of cardiac MRIMuhammad U Mustafa
Department of Cardiology, Newark Beth Israel Medical Center, Newark, New Jersey 07039, USA
J Invasive Cardiol 16:340. 2004
- Alcohol septal ablation after failed surgical myectomyDominique Joyal
Division of Cardiology, Loyola University Medical Center, Maywood, Illinois 60153, USA
Catheter Cardiovasc Interv 69:999-1002. 2007....
- Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathyHee-Hwa Ho
Division of Cardiology, Department of Medicine, University of Hong Kong, Queen Mary Hospital, Hong Kong, China
Am J Med 116:19-23. 2004BACKGROUND: Data on the phenotypical pattern and natural history of hypertrophic cardiomyopathy in Chinese patients are very limited...
- Percutaneous transluminal septal myocardial ablation in hypertrophic obstructive cardiomyopathy: Acute results and three-year noninvasive follow-up in 18 patientsHangyuan 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)...
- Predominant, severe right ventricular outflow tract obstruction in hypertrophic cardiomyopathyR Krecki
II Chair of Cardiology, Medical University of Lodz, Bieganski Hospital, Kniaziewicza 1/5, 91-347 Lodz, Poland
Circulation 116:e551-3. 2007
- Percutaneous transseptal myocardial ablation with wire (PTSAW): a new techniqueVijay Trehan
Department of Cardiology, G P Pant Hospital, New Delhi-110002, India
J Invasive Cardiol 16:204-6. 2004....
- Regional dyssynergy of the interventricular septum after septal artery occlusion in hypertrophic obstructive cardiomyopathy: use of quantitative Doppler tissue and strain rate imagingPartho 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...
- New approach to septal ablation: glue (cyanoacrylate) septal ablationAli 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...
- Biphasic left ventricular outflow and its mechanism in hypertrophic obstructive cardiomyopathyHeidi 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...
- Successful catheter ablation for incessant ventricular tachycardia in a patient with hypertrophic cardiomyopathyYasuo 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 ..
- Clinical practice. Hypertrophic obstructive cardiomyopathyRick 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
- Mid-ventricular obstructive hypertrophic cardiomyopathy with apical aneurysmErtugrul Ercan
Clinic of Cardiology, Central Hospital, Izmir
Anadolu Kardiyol Derg 4:105. 2004
- Extended septal myectomy for hypertrophic obstructive cardiomyopathy with anomalous mitral papillary muscles or chordaeKenji Minakata
Division of Cardiovascular Surgery, Mayo Clinic, Rochester, Minn, USA
J Thorac Cardiovasc Surg 127:481-9. 2004....
- Conduction system abnormalities in patients with obstructive hypertrophic cardiomyopathy following septal reduction interventionsJian 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)...
- Echo-guided percutaneous septal ablation for symptomatic hypertrophic obstructive cardiomyopathy: 7 years of experienceLothar 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....
- Intracoronary myocardial contrast echocardiography in a patient with drug refractory hypertrophic obstructive cardiomyopathy revealing extensive myocardium at risk for infarction with alcohol septal ablationDaniel Monakier
Toronto General Hospital, University Health Network, Toronto, Canada
J Invasive Cardiol 16:482-4. 2004
- Pathomorphological variants of midventricular obstruction of interventricular septum during hypertrophic cardiomyopathyV 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.
- A patient with hypertrophic obstructive cardiomyopathy presenting with left ventricular apical ballooning syndromeWissam 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
- Pressure gradient response after alcohol septal ablation in hypertrophic obstructive cardiomyopathyJosef Veselka
Kardiol Pol 64:1161-2; author reply 1162. 2006
- One-year follow-up of percutaneous septal ablation for symptomatic hypertrophic obstructive cardiomyopathy in 312 patients: predictors of hemodynamic and clinical responseL 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....
- Evaluation of cardiac resynchronization therapy in drug-resistant dilated-phase hypertrophic cardiomyopathy by means of Tc-99m sestamibi ECG-gated SPECTShinro 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...
- Intracardiac echocardiography guidance during percutaneous transluminal septal myocardial ablation in patients with obstructive hypertrophic cardiomyopathyChiara 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...
- Acute decompensation of hypertrophic obstructive cardiomyopathy secondary to A-V disassociation: successful treatment with a combination of alcohol septal ablation and permanent pacemakerSameer 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...
- Impaired coronary circulation in patients with apical hypertrophic cardiomyopathy: noninvasive analysis by transthoracic Doppler echocardiographyKen 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)...
- Catheter-based septal ablation for symptomatic hypertrophic obstructive cardiomyopathy: follow-up results of the TASH-registry of the German Cardiac SocietyL 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...
- [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...
- Creatine depletion and altered fatty acid metabolism in diseased human hearts: clinical investigation using 1H magnetic resonance spectroscopy and 123I BMIPP myocardial scintigraphyI 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...
- Hypertrophic cardiomyopathy with progression from apical hypertrophy to asymmetrical septal hypertrophy: a case reportHiroaki 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...
- Detection of patients with hypertrophic cardiomyopathy at risk for paroxysmal atrial fibrillation during sinus rhythm by P-wave dispersionSedat Kose
Gulhane Military Medical Academy, Department of Cardiology, Ankara, Turkey
Clin Cardiol 26:431-4. 2003Paroxysmal 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...
- Comparison of percutaneous transluminal septal myocardial ablation versus septal myectomy for the treatment of patients with hypertrophic obstructive cardiomyopathy--a meta analysisZhiyu 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...
- Partial myocardial fibrosis in hypertrophic cardiomyopathy demonstrated by 18F-fluoro-deoxyglucose positron emission tomography and multislice computed tomographyNobusada Funabashi
Int J Cardiol 107:284-6. 2006
- Usefulness of real-time three-dimensional echocardiography for evaluation of myectomy in patients with hypertrophic cardiomyopathyJian Xin Qin
Cleveland Clinic Found, Cleveland, OH
Am J Cardiol 94:964-6. 2004Real-time 3-dimensional echocardiography was performed in 10 patients with obstructive hypertrophic cardiomyopathy (HC) before and after myectomy and in 6 controls...
- Myocardial perfusion after percutaneous transluminal septal myocardial ablation as assessed by myocardial contrast echocardiography in patients with hypertrophic obstructive cardiomyopathyChiara 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...
- Difficult cases in heart failure. Percutaneous transluminal septal myocardial ablation in the management of hypertrophic obstructive cardiomyopathyGeorges Feghali
Heart and Vascular Institute, Ochsner Clinic Foundation, New Orleans, LA 70121, USA
Congest Heart Fail 9:343-6. 2003b>Hypertrophic cardiomyopathy is a complex genetic condition with a heterogeneous clinical course...
- Comparison of myocardial fatty acid metabolism with left ventricular function and perfusion in cardiomyopathies: by 123I-BMIPP SPECT and 99mTc-tetrofosmin electrocardiographically gated SPECTChunlei Zhao
Department of Radiology, Asahikawa Medical College and Hospital, Japan
Ann Nucl Med 17:541-8. 2003To investigate myocardial fatty acid metabolism and its relationship with left ventricular (LV) function and perfusion in hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM).
- Echocardiographic features of pigs with spontaneous hypertrophic cardiomyopathyJyh-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 ..
- Comparison of left ventricular diastolic function in obstructive hypertrophic cardiomyopathy in patients undergoing percutaneous septal alcohol ablation versus surgical myotomy/myectomyMarta 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)...
- Early remodelling of left ventricle and improvement of myocardial performance in patients after percutaneous transluminal septal myocardial ablation for hypertrophic obstructive cardiomyopathyJosef 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....
- A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patientsTetsuo 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. 2003We 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.
- Single Cross-Bridge Kinetics in Transgenic Mouse Hearts Expressing FHC MutationsDanuta Szczesna Cordary; Fiscal Year: 2010Familial 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 ..
- Arrhythmia Mechanisms in Sarcomeric CardiomyopathiesBJORN C contact KNOLLMANN; Fiscal Year: 2010Familial Hypertrophic Cardiomyopathy (FHC) is an autosomal-dominant disease resulting from mutations in genes encoding sarcomeric proteins...
- The Role of the Proteasome in Troponin related CardiomyopathiesALDRIN VERNO GOMES; Fiscal Year: 2010..Mutations in cardiac troponin T (cTnT) are responsible for ~7% of all familial hypertrophic cardiomyopathy (FHC) cases...
- In Situ Sensing of Single Myosin Function in Hypertrophy DiseaseThomas 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...
- 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 ..
- Role of actin domains in force generation in myocardiumMasataka Kawai; Fiscal Year: 2009..in the striated muscle system; in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
- Role of actin domains in force generation in myocardiumMasataka Kawai; Fiscal Year: 2010..contraction in the striated muscle system;in particular, we will study the mechanism of pathogenesis in hypertrophic cardiomyopathy (HCM)...
- Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathyJohn P Konhilas; Fiscal Year: 2011..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
- Impact of AMP-activated kinase on sex differences in hypertrophic cardiomyopathyJohn P Konhilas; Fiscal Year: 2010..disease resulting from many disease etoilogies including hypertension, myocardial infarction, and hypertrophic cardiomyopathy (HCM)...
- 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+ ..
- ANISOTROPY IN MYOCARDIAL ULTRASOUNDJames Miller; Fiscal Year: 2009..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
- ANISOTROPY IN MYOCARDIAL ULTRASOUNDJAMES GEGAN MILLER; Fiscal Year: 2010..e., altered anisotropy) associated with hypertrophic cardiomyopathy on echocardiographic imaging and tissue characterization...
- 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)...
- Troponin and myosin in regulation of muscle contraction and heart diseaseZenon Grabarek; Fiscal Year: 2010A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
- Troponin and myosin in regulation of muscle contraction and heart diseaseZenon Grabarek; Fiscal Year: 2011A number of familial hypertrophic cardiomyopathy (FHC) causing mutations have been identified in the regulatory proteins, tropomyosin (Tm) and troponin (Tn)...
- Spectroscopy of myosin light chain domain dynamicsOsha Roopnarine; Fiscal Year: 2007..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...
- THIN FILAMENTS WITH CARDIOMYOPATHIC MUTANT PROTEINSLARRY TOBACMAN; Fiscal Year: 2003DESCRIPTION (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...
- Molecular mechanics of mutant cardiac myosinJeffrey R Moore; Fiscal Year: 2010The cardiac hypertrophy, myofibrillar disarray and sudden death caused by familial hypertrophic cardiomyopathy (FHC) results from autosomal dominant mutations in sarcomeric proteins...
- cMyBPC and Regulation of Myocardial ContractionSamantha 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 ..
- cMyBPC and Regulation of Myocardial ContractionSamantha 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 ..
- CD36 and Intestinal Fat AbsorptionNADA 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 ..
- MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONINJames 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...
- MECHANISM OF CARDIAC MUSCLE REGULATION BY TROPONINJames 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...
- Cardiac Troponin in Health and DiseaseJames 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, ..
- Troponin T mutations and Sudden Cardiac DeathBjorn Knollmann; Fiscal Year: 2006Familial 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)...
- Cardiac Troponin in Health and DiseaseJAMES 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, ..