Abstract
Hypertrophic cardiomyopathy (HCM) is a primary cardiac disorder with unique pathophysiology, heterogeneous expression, and diverse clinical presentations. It is probably the most common genetically transmitted heart disease. HCM is often familial, is transmitted by autosomal dominant means, and has a high degree of pene-trance. The latter is age related, with typical features developing during adolescence. The disease is characterized by mutations in the DNA encoding β cardiac myosin heavy chain (chromosome 14), a tropomyosin (chromosome 15), and cardiac troponin T (chromosome 1), in addition to a locus on chromosome 11.1–6 Despite dramatic improvements in understanding HCM, challenges and controversies regarding its diagnosis, etiology, natural history, and management still exist. Terminology is likewise difficult, but HCM is generally preferred,avoiding the term idiopathic subaortic stenosis or hypertrophic obstructive cardiomyopathy, which implies left ventricular (LV) outflow tract obstruction. It also excludes secondary causes of LV hypertrophy.7,8
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Henein, M.Y., Sheppard, M., Pepper, J., Rigby, M. (2004). Hypertrophic Cardiomyopathy. In: Clinical Echocardiography. Springer, London. https://doi.org/10.1007/978-1-4471-3785-6_10
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DOI: https://doi.org/10.1007/978-1-4471-3785-6_10
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