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(Circulation. 1995;92:700-704.)
© 1995 American Heart Association, Inc.
Articles |
Prevalence of Hypertrophic Cardiomyopathy and Limitations of Screening Methods
From the Inherited Cardiac Diseases Section, Cardiology Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Md.
Correspondence to Lameh Fananapazir, MD, FRCP, Co-Chief, Inherited Cardiac Diseases Section, Director, Clinical Electrophysiology Laboratory, Building 10, Room 7B-14, Cardiology Branch, NHLBI, National Institutes of Health, 10 Center Dr MSC 1650, Bethesda, MD 20892-1650.
Key Words: Editorials • hypertrophy • cardiomyopathy
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Introduction |
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Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disease with an autosomal dominant pattern of inheritance that has traditionally been characterized by left ventricular hypertrophy (LVH) in the absence of another cause for the increased cardiac mass.1 It may be associated with severe symptoms and occasionally masquerades as "heart attacks," valvular heart disease, or arrhythmias of uncertain origin. HCM is the most common cause of sudden cardiac death in otherwise healthy young individuals, such as athletes. Since the diagnosis is frequently made postmortem, there is a pressing need to investigate the prevalence of HCM and the methods by which it is detected. Recent advances in the molecular genetics of HCM have increased our understanding of its pathophysiology and heightened our awareness of the variable expression of the disease. The use of molecular markers (the genetic defects) has demonstrated the marked phenotypic variability of HCM even within the same family. Features associated with HCM, such as arrhythmias, myocardial ischemia, and/or diastolic dysfunction, may be present in patients in the absence of LVH as determined by echocardiography.2 3 4 Hence, epidemiological studies that rely solely on echocardiographic parameters provide a restricted view of the prevalence and impact of HCM in the general population.
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Limitations of Epidemiological Studies of HCM |
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Several echocardiographic studies have estimated the prevalence of HCM in the general population to be 0.2%.5 6 The Coronary Artery Risk Development in Adults (CARDIA) study investigators report an almost identical prevalence of HCM.7 The CARDIA study was initially designed to investigate the longitudinal influence of lifestyle and other factors on the risk
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