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Original Article

Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure EventsClinical Perspective

Qin Li, Christiane Gruner, Raymond H. Chan, Melanie Care, Katherine Siminovitch, Lynne Williams, Anna Woo, Harry Rakowski
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https://doi.org/10.1161/CIRCGENETICS.113.000331
Circulation: Genomic and Precision Medicine. 2014;7:416-422
Originally published June 8, 2014
Qin Li
From 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.).
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Christiane Gruner
From 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.).
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Raymond H. Chan
From 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.).
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Melanie Care
From 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.).
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Katherine Siminovitch
From 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.).
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Lynne Williams
From 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.).
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Anna Woo
From 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.).
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Harry Rakowski
From 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.).
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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.

  • cardiomyopathy, hypertrophic
  • heart failure
  • Received July 2, 2013.
  • Accepted May 4, 2014.
  • © 2014 American Heart Association, Inc.
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August 2014, Volume 7, Issue 4
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    Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure EventsClinical Perspective
    Qin Li, Christiane Gruner, Raymond H. Chan, Melanie Care, Katherine Siminovitch, Lynne Williams, Anna Woo and Harry Rakowski
    Circulation: Genomic and Precision Medicine. 2014;7:416-422, originally published June 8, 2014
    https://doi.org/10.1161/CIRCGENETICS.113.000331

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    Genotype-Positive Status in Patients With Hypertrophic Cardiomyopathy Is Associated With Higher Rates of Heart Failure EventsClinical Perspective
    Qin Li, Christiane Gruner, Raymond H. Chan, Melanie Care, Katherine Siminovitch, Lynne Williams, Anna Woo and Harry Rakowski
    Circulation: Genomic and Precision Medicine. 2014;7:416-422, originally published June 8, 2014
    https://doi.org/10.1161/CIRCGENETICS.113.000331
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  • Genetics
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    • Heart Failure
    • Cardiomyopathy

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