The Present and Future
Review Topic of the Week
New Perspectives on the Prevalence of Hypertrophic Cardiomyopathy

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Abstract

Hypertrophic cardiomyopathy (HCM) is an important genetic heart muscle disease for which prevalence in the general population has not been completely resolved. For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive–phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population. They suggest that HCM is more common than previously estimated, which may enhance its recognition in the practicing cardiovascular community, allowing more timely diagnosis and the implementation of appropriate treatment options for many patients.

Key Words

genetics
hypertrophic cardiomyopathy
magnetic resonance imaging
sudden death

Abbreviations and Acronyms

CMR
cardiac magnetic resonance
G+ P−
genotype positive-phenotype negative
HCM
hypertrophic cardiomyopathy
LV
left ventricular

Cited by (0)

Dr. Semsarian is the recipient of a National Health and Medical Research Council (NHMRC) in Australia Practitioner Fellowship (No. 571084). Dr. Ingles is the recipient of an NHMRC and National Heart Foundation of Australia Early Career Fellowship (No. 1036756). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.

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