Authors

Thomas Force, Center for Translational Medicine, Cardiology Division, Thomas Jefferson UniversityFollow
Robert O Bonow, Department of Medicine, Northwestern University School of Medicine
Steven R Houser, Department of Physiology, Temple University School of Medicine
R John Solaro, Department of Physiology, University of Illinois School of Medicine
Ray E Hershberger, Cardiovascular Division, Department of Medicine, University of Miami Miller School of Medicine
Bishow Adhikari, National Heart, Lung, and Blood Institute, National Institutes of Health
Mark E Anderson, Department of Medicine, University of Iowa Carver College of Medicine
Robin Boineau, Powell Gene Therapy Center, College of Medicine, University of Florida
Barry J Byrne, Powell Gene Therapy Center, College of Medicine, University of Florida
Thomas P Cappola, Cardiology Division, University of Pennsylvania School of Medicine
Raghu Kalluri, Department of Medicine, Beth Israel-Deaconess Medical Center, Harvard Medical School
Martin M LeWinter, Cardiology Unit, Department of Medicine, University of Vermont College of Medicine
Martin S Maron, Tufts Medical Center, Tufts University School of Medicine
Jeffery D Molkentin, Department of Pediatrics, Howard Hughes Medical Institute, University of Cincinnati
Steve R Ommen, Mayo Clinic
Michael Regnier, Department of Bioengineering, University of Washington
W H Wilson Tang, Cleveland Clinic Foundation
Rong Tian, Mitochondrial and Metabolism Center, University of Washington
Marvin A Konstam, Tufts Medical Center, Tufts University School of Medicine
Barry J Maron, Hypertrophic Cardiomyopathy Center, Minneapolis Heart Institute Foundation
Christine E Seidman, Howard Hughes Medical Institute, Brigham and Women's Hospital, Harvard Medical School

Document Type

Article

Publication Date

9-14-2010

Comments

This article has been peer reviewed. It is the authors' final version prior to publication in Circulation. Volume 122, Issue 11, September 2010, Pages 1130-1133. The published version is available at DOI: 10.1161/CIRCULATIONAHA.110.950089. Copyright © American Heart Association, Inc.

Abstract

Hypertrophic cardiomyopathy (HCM) is a myocardial disorder characterized by left ventricular (LV) hypertrophy without dilatation and without apparent cause (ie, it occurs in the absence of severe hypertension, aortic stenosis, or other cardiac or systemic diseases that might cause LV hypertrophy). Numerous excellent reviews and consensus documents provide a wealth of additional background.1–8 HCM is the leading cause of sudden death in young people and leads to significant disability in survivors. It is caused by mutations in genes that encode components of the sarcomere. Cardiomyocyte and cardiac hypertrophy, myocyte disarray, interstitial and replacement fibrosis, and dysplastic intramyocardial arterioles characterize the pathology of HCM. Clinical manifestations include impaired diastolic function, heart failure, tachyarrhythmia (both atrial and ventricular), and sudden death. At present, there is a lack of understanding of how the mutations in genes encoding sarcomere proteins lead to the phenotypes described above. Current therapeutic approaches have focused on the prevention of sudden death, with implantable cardioverter defibrillator placement in high-risk patients. But medical therapies have largely focused on alleviating symptoms of the disease, not on altering its natural history. The present Working Group of the National Heart, Lung, and Blood Institute brought together clinical, translational, and basic scientists with the overarching goal of identifying novel strategies to prevent the phenotypic expression of disease. Herein, we identify research initiatives that we hope will lead to novel therapeutic approaches for patients with HCM.

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