Trial DesignHypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy
Section snippets
Background
Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease with a frequency as high as 1 in 200.1, 2 Sarcomere gene mutations are an important cause of disease. Hypertrophic cardiomyopathy is characterized by unexplained left ventricular hypertrophy (LVH), myofibrillar disarray, and myocardial fibrosis.3, 4 Phenotypic expression is highly variable. Although most patients with HCM are asymptomatic, the prognosis is poor in a subset of affected individuals who present initially
Overview
A prospective cohort of 2,750 HCM patients will undergo a CMR and blood draw for genetic and biomarker evaluations and be followed up for up to 5 years with hopes to identify novel prognostic factors of cardiovascular outcome.
Executive committee and core laboratories
The coprincipal investigators of the study are Christopher M. Kramer, MD, University of Virginia Health System, and Stefan Neubauer, MD, University of Oxford. The data coordinating center at Christiana Center for Outcomes Research is led by William S. Weintraub, MD. ICON
Discussion
The HCMR is planned as a natural history study of 2,750 patients with clinical diagnoses. In addition to baseline collection of demographic data and traditional clinical risk factors, markers from CMR, genotyping, and serum biomarkers will be assessed to understand the relationship between these risk markers and clinical outcome, providing novel insights into disease progression and risk. This is the largest such prospective outcomes study ever performed in this disease. The study is powered to
Conclusion
The HCMR has the potential to change the paradigm of risk stratification in HCM using novel imaging, genetic, and biomarkers. This may lead to improved patient care and identification of optimal candidates for new therapies for this disease.
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The authors are solely responsible for the content of this article, which does not necessarily represent the official views of the National Heart, Lung, and Blood Institute or the National Institutes of Health.
Funding sources: National Heart, Lung, and Blood Institute U01HL117006-01A1, National Institute of General Medical Sciences U54-GM10494, and Oxford NIHR Biomedical Research Centre.