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• W2000497967 abstract "Left ventricular (LV) shortening and function in hypertrophic cardiomyopathy (HCM) depends on the interplay among molecular, ultrastructural, and geometric factors. HCM is a complex condition in which all of these factors are abnormal to a widely variable extent. It is a primary disorder of the myocardium caused by mutations in cardiac sarcomeric proteins. 1 Seidman C. Genetic causes of inherited cardiac hypertrophy: Robert L. Frye lecture. Mayo Clin Proc. 2002; 77: 1315-1319 Abstract Full Text Full Text PDF PubMed Scopus (14) Google Scholar , 2 Cuda G. Fananapazir L. Zhu W.S. Sellers J.R. Epstein N.D. Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy. J Clin Invest. 1993; 91: 2861-2865 Crossref PubMed Scopus (202) Google Scholar , 3 Cuda G. Fananapazir L. Epstein N.D. Sellers J.R. The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy. J Muscle Res Cell Motil. 1997; 18: 275-283 Crossref PubMed Scopus (111) Google Scholar , 4 Bing W. Knott A. Redwood C. Esposito G. Purcell I. Watkins H. et al. Effect of hypertrophic cardiomyopathy mutations in human cardiac a-tropomyosin (Asp175Asn and Glu180Gly) on the regulatory properties of human cardiac troponin determined by in vitro motility assay. J Mol Cell Cardiol. 2000; 32: 1489-1498 Abstract Full Text PDF PubMed Scopus (63) Google Scholar Histopathologically, HCM is associated with myocardial hypertrophy, fiber disarray, increased loose connective tissue, and fibrosis. HCM is also associated with abnormal ventricular size and papillary muscle orientation. These abnormalities are all thought to interfere with the generation of force and relaxation of the myocardium. 5 Teare D. Asymmetrical hypertrophy of the heart in young patients. Br Heart J. 1958; 20: 1-8 Crossref PubMed Scopus (680) Google Scholar , 6 Ferrans V.J. Morrow A.G. Roberts W.C. Myocardial ultrastructure in idiopathic hypertrophic subaortic stenosis: a study of operatively excised left ventricular outflow tract muscle in 14 patients. Circulation. 1972; 45: 769-792 Crossref PubMed Scopus (180) Google Scholar , 7 Pomerance A. Davies M.J. Pathological features of hypertrophic obstructive cardiomyopathy (HOCM) in the elderly. Br Heart J. 1975; 37: 305-312 Crossref PubMed Scopus (46) Google Scholar , 8 Van Noorden S. Olsen E.G. Pearse A.G. Hypertrophic obstructive cardiomyopathy: a histological, histochemical and ultrastructural study of biopsy material. Cardiovasc Res. 1971; 5: 118-131 Crossref PubMed Scopus (89) Google Scholar , 9 Maron B.J. Ferrans V.J. Henry W.L. Clark C.E. Redwood D.R. Roberts W.C. et al. Differences in distribution of myocardial abnormalities in patients with obstructive and nonobstructive asymmetric septal hypertrophy (ASH): light and electron microscopic findings. Circulation. 1974; 50: 436-446 Crossref PubMed Scopus (113) Google Scholar To date more than 450 different causal mutations have been identified within 13 myofilament-related genes. 10 Alcalai R. Seidman J.G. Seidman C.E. Genetic basis of hypertrophic cardiomyopathy. J Cardiovasc Electrophysiol. 2008; 19: 104-110 PubMed Google Scholar In patients with HCM, more than 60% will have mutations detected, with this percentage being lower in patients with focal basal hypertrophy and in the elderly. The phenotypic expression of these mutations can vary greatly with development of clinical disease in childhood or late adulthood, mild to severe hypertrophy, dominance of hypertrophy in the septum or apex, dynamic obstruction at the LV or right ventricular (RV) outflow tract or the mid ventricle, and relatively benign prognosis or the development of sudden death. 11 Wigle E.D. Rakowski H. Kimball B.P. Williams W.G. Hypertrophic cardiomyopathy Clinical spectrum and treatment. Circulation. 1995; 92: 1680-1692 Crossref PubMed Scopus (690) Google Scholar Small animal models have demonstrated abnormalities in the degree and speed of myocyte force generation related to inherent changes in myocyte structure or calcium flux." @default.
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• W2000497967 title "Myocardial Fibrosis and Regional Function in Hypertrophic Cardiomyopathy: May the Force Be with You" @default.
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