title: Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy.
abstract: 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.
authors: University of Virginia Health System, Charlottesville, VA. Electronic address: ckramer@virginia.edu.
authors: Christopher M
authors: CM
authors: Kramer
authors: Beth Israel Deaconess Medical Center, Boston, MA.
authors: Evan
authors: E
authors: Appelbaum
authors: Cleveland Clinic, Cleveland, OH.
authors: Milind Y
authors: MY
authors: Desai
authors: National Heart, Lung, and Blood Institute, Bethesda, MD.
authors: Patrice
authors: P
authors: Desvigne-Nickens
authors: University of Virginia Health System, Charlottesville, VA.
authors: John P
authors: JP
authors: DiMarco
authors: Montreal Heart Institute, Montreal, Quebec, Canada.
authors: Matthias G
authors: MG
authors: Friedrich
authors: National Heart, Lung, and Blood Institute, Bethesda, MD.
authors: Nancy
authors: N
authors: Geller
authors: Christiana Center for Health Outcomes, Newark, DE.
authors: Sarahfaye
authors: S
authors: Heckler
authors: Brigham and Women's Hospital, Boston, MA.
authors: Carolyn Y
authors: CY
authors: Ho
authors: Brigham and Women's Hospital, Boston, MA.
authors: Michael
authors: M
authors: Jerosch-Herold
authors: Christiana Center for Health Outcomes, Newark, DE.
authors: Elizabeth A
authors: EA
authors: Ivey
authors: National Heart, Lung, and Blood Institute, Bethesda, MD.
authors: Julianna
authors: J
authors: Keleti
authors: National Heart, Lung, and Blood Institute, Bethesda, MD.
authors: Dong-Yun
authors: DY
authors: Kim
authors: Christiana Center for Health Outcomes, Newark, DE.
authors: Paul
authors: P
authors: Kolm
authors: Brigham and Women's Hospital, Boston, MA.
authors: Raymond Y
authors: RY
authors: Kwong
authors: Tufts New England Medical Center, Boston, MA.
authors: Martin S
authors: MS
authors: Maron
authors: Charité Campus Busch, Berlin, Germany.
authors: Jeanette
authors: J
authors: Schulz-Menger
authors: University of Oxford, Oxford, United Kingdom.
authors: Stefan
authors: S
authors: Piechnik
authors: University of Oxford, Oxford, United Kingdom.
authors: Hugh
authors: H
authors: Watkins
authors: Christiana Center for Health Outcomes, Newark, DE.
authors: William S
authors: WS
authors: Weintraub
authors: Christiana Center for Health Outcomes, Newark, DE.
authors: Pan
authors: P
authors: Wu
authors: University of Oxford, Oxford, United Kingdom.
authors: Stefan
authors: S
authors: Neubauer
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015415:Biomarkers / Q000097:blood; D002312:Cardiomyopathy, Hypertrophic / Q000175:diagnosis* / Q000453:epidemiology / Q000503:physiopathology; D015150:Echocardiography, Doppler / Q000379:methods*; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing / Q000379:methods*; D014943:Global Health; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000473:pathology / Q000503:physiopathology*; D006801:Humans; D019028:Magnetic Resonance Imaging, Cine / Q000379:methods*; D008297:Male; D008875:Middle Aged; D009017:Morbidity / Q000639:trends; D011446:Prospective Studies; D012042:Registries; D012720:Severity of Illness Index; D013318:Stroke Volume; D013997:Time Factors; D055815:Young Adult
chemical_list: D015415:Biomarkers