title: New perspectives on the prevalence of hypertrophic cardiomyopathy.
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.
authors: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
authors: Christopher
authors: C
authors: Semsarian
authors: Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
authors: Jodie
authors: J
authors: Ingles
authors: Tufts Medical Center and School of Medicine, Boston, Massachusetts.
authors: Martin S
authors: MS
authors: Maron
authors: Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation, Minneapolis, Minnesota. Electronic address: hcm.maron@mhif.org.
authors: Barry J
authors: BJ
authors: Maron
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics*; D016757:Death, Sudden, Cardiac / Q000453:epidemiology*; D015150:Echocardiography, Doppler / Q000379:methods; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology*; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods; D008297:Male; D010641:Phenotype; D015995:Prevalence; D011379:Prognosis; D018570:Risk Assessment; D012720:Severity of Illness Index; D016019:Survival Analysis
keywords: genetics; hypertrophic cardiomyopathy; magnetic resonance imaging; sudden death