Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy

Christopher M. Kramer, Evan Appelbaum, Milind Y. Desai, Patrice Desvigne-Nickens, John P. DiMarco, Matthias G. Friedrich, Nancy Geller, Sarahfaye Heckler, Carolyn Y. Ho, Michael Jerosch-Herold, Elizabeth A. Ivey, Julianna Keleti, Dong Yun Kim, Paul Kolm, Raymond Y. Kwong, Martin S. Maron, Jeanette Schulz-Menger, Stefan Piechnik, Hugh Watkins, William S. WeintraubPan Wu, Stefan Neubauer

Research output: Contribution to journalArticlepeer-review

78 Scopus citations


Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease with a frequency as high as 1 in 200. In many cases, HCM is caused by mutations in genes encoding the different components of the sarcomere apparatus. Hypertrophic cardiomyopathy is characterized by unexplained left ventricular hypertrophy, myofibrillar disarray, and myocardial fibrosis. The phenotypic expression is quite variable. Although most patients with HCM are asymptomatic, serious consequences are experienced in a subset of affected individuals who present initially with sudden cardiac death or progress to refractory heart failure. The Hypertrophic Cardiomyopathy Registry study is a National Heart, Lung, and Blood Institute-sponsored 2,750-patient, 44-site, international registry and natural history study designed to address limitations in extant evidence to improve prognostication in HCM (NCT01915615). In addition to the collection of standard demographic, clinical, and echocardiographic variables, patients will undergo state-of-the-art cardiac magnetic resonance for assessment of left ventricular mass and volumes as well as replacement scarring and interstitial fibrosis. In addition, genetic and biomarker analyses will be performed. The Hypertrophic Cardiomyopathy Registry has the potential to change the paradigm of risk stratification in HCM, using novel markers to identify those at higher risk.

Original languageEnglish (US)
Pages (from-to)223-230
Number of pages8
JournalAmerican Heart Journal
Issue number2
StatePublished - Aug 1 2015
Externally publishedYes

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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