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Circ Cardiovasc Genet. 2014 Aug;7(4):416-22. doi: 10.1161/CIRCGENETICS.113.000331. Epub 2014 Jun 8.

Genotype-positive status in patients with hypertrophic cardiomyopathy is associated with higher rates of heart failure events.

Author information

  • 1From the Division of Cardiology, Peter Munk Cardiac Center, Toronto General Hospital, Toronto, Ontario, Canada (Q.L., L.W., A.W., H.R.); Division of Cardiology, University Hospital of Zurich, Zurich, Switzerland (C.G.); Department of Medicine (Cardiovascular Division) and Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA (R.H.C.); Fred A. Litwin and Family Center in Genetic Medicine, Mount Sinai Hospital, University Health Network, Toronto, Ontario, Canada (M.C., K.S.); and Department of Medicine, University of Toronto and Samuel Lunenfeld and Toronto General Research Institutes, Toronto, Ontario, Canada (K.S.). qin.li@mail.utoronto.ca.
  • 2From the Division of Cardiology, Peter Munk Cardiac Center, Toronto General Hospital, Toronto, Ontario, Canada (Q.L., L.W., A.W., H.R.); Division of Cardiology, University Hospital of Zurich, Zurich, Switzerland (C.G.); Department of Medicine (Cardiovascular Division) and Radiology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA (R.H.C.); Fred A. Litwin and Family Center in Genetic Medicine, Mount Sinai Hospital, University Health Network, Toronto, Ontario, Canada (M.C., K.S.); and Department of Medicine, University of Toronto and Samuel Lunenfeld and Toronto General Research Institutes, Toronto, Ontario, Canada (K.S.).

Abstract

BACKGROUND:

The aim of the study was to clarify the relationship between genotype status and major cardiovascular outcomes in a large cohort of patients with hypertrophic cardiomyopathy.

METHODS AND RESULTS:

Genetic testing was performed in 558 consecutive proband patients with hypertrophic cardiomyopathy. Baseline and follow-up (mean follow-up 6.3 years) clinical and echocardiographic data were obtained. Pathogenic mutations were identified in 198 (35.4%) patients. Genotype-positive patients were more likely to be women (44% versus 30%; P=0.001), younger (39 versus 48 years; P<0.001), and have a family history of hypertrophic cardiomyopathy (53% versus 20%; P<0.001), as well as family history of sudden cardiac death (17% versus 7%; P=0.002). There were no significant differences in the rates of atrial fibrillation, stroke, or septal reduction procedures. Multivariable analysis demonstrated that genotype-positive status was an independent risk factor for the development of combined heart failure end points (decline in left ventricular ejection fraction to <50%, New York Heart Association III or IV in the absence of obstruction, heart failure-related hospital admission, transplantation, and heart failure-related death; hazards ratio, 4.51; confidence interval, 2.09-9.31; P<0.001). No difference was seen in heart failure events between the myosin heavy chain and myosin-binding protein C genotype-positive patients.

CONCLUSIONS:

The presence of a pathogenic sarcomere mutation in patients with hypertrophic cardiomyopathy was associated with an increase in heart failure events, with no differences in event rates seen between myosin heavy chain and myosin-binding protein C genotype-positive patients. The presence of a disease-causing mutation seems more clinically relevant than the specific mutation itself.

© 2014 American Heart Association, Inc.

KEYWORDS:

cardiomyopathy, hypertrophic; heart failure

PMID:
24909666
[PubMed - in process]
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