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(Circulation. 2007;116:2325-2345.)
© 2007 American Heart Association, Inc.

Basic Science for Clinicians

Inherited Arrhythmias

A National Heart, Lung, and Blood Institute and Office of Rare Diseases Workshop Consensus Report About the Diagnosis, Phenotyping, Molecular Mechanisms, and Therapeutic Approaches for Primary Cardiomyopathies of Gene Mutations Affecting Ion Channel Function

Stephan E. Lehnart, MD, PhD; Michael J. Ackerman, MD, PhD; D. Woodrow Benson, Jr, MD, PhD; Ramon Brugada, MD; Colleen E. Clancy, PhD; J. Kevin Donahue, MD; Alfred L. George, Jr, MD; Augustus O. Grant, MD, PhD; Stephen C. Groft, PharmD; Craig T. January, MD, PhD; David A. Lathrop, PhD; W. Jonathan Lederer, MD, PhD; Jonathan C. Makielski, MD; Peter J. Mohler, PhD; Arthur Moss, MD; Jeanne M. Nerbonne, PhD; Timothy M. Olson, MD; Dennis A. Przywara, PhD; Jeffrey A. Towbin, MD; Lan-Hsiang Wang, PhD; Andrew R. Marks, MD

From the Departments of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology (S.E.L., A.R.M.), and Medicine (A.R.M.), College of Physicians and Surgeons of Columbia University, New York, NY; Molecular Pharmacology and Experimental Therapeutics (M.J.A.), Medicine/Division of Cardiovascular Diseases (M.J.A.), and Pediatric and Adolescent Medicine/Division of Pediatric Cardiology (M.J.A.), Mayo Clinic, Rochester, Minn; Divisions of Cardiology and Molecular Cardiovascular Biology, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio (D.W.B.); Montréal Heart Institute and University of Montreal Clinical Cardiovascular Genetics Center, Montréal, Québec, Canada (R.B.); Physiology and Biophysics, Institute for Computational Biomedicine, Weill Medical College of Cornell University, New York, NY (C.E.C.); Heart and Vascular Research Center, MetroHealth Hospital, Case Western Reserve University, Cleveland, Ohio (J.K.D.); Medicine, Division of Genetic Medicine, Vanderbilt University, Nashville, Tenn (A.L.G.); Medicine, Duke University, Durham, NC (A.O.G.); Office of Rare Diseases at the National Institutes of Health, Bethesda, Md (S.C.G.); Section of Cardiology, University of Wisconsin Hospital and Clinics, Madison (C.T.J.); Division of Cardiovascular Diseases, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, Md (D.A.L., D.A.P., L.W.); Medical Biotechnology Center, University of Maryland Biotechnology Institute, and Physiology, University of Maryland, Baltimore (W.J.L.); Medicine, Cardiovascular Medicine Section, University of Wisconsin, Madison (J.C.M.); Internal Medicine, Division of Cardiology, and Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City (P.J.M.); Medicine, Cardiology Division, University of Rochester Medical Center, Rochester, NY (A.M.); Center for Cardiovascular Research and Molecular Biology and Pharmacology, Washington University School of Medicine, St Louis, Mo (J.M.N.); Cardiovascular Genetics Laboratory, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, Minn (T.M.O.); and Pediatrics (Cardiology), Baylor College of Medicine, Texas Children’s Hospital, Houston (J.A.T.).

Correspondence to Andrew R. Marks, MD, (e-mail arm42{at}columbia.edu) or Stephan E. Lehnart, MD, PhD (e-mail sel2004@columbia.edu), Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, and Department of Medicine, College of Physicians and Surgeons of Columbia University, P&S 9-401 box 22, 630 W 168 St, New York, NY 10032.

The National Heart, Lung, and Blood Institute and Office of Rare Diseases at the National Institutes of Health organized a workshop (September 14 to 15, 2006, in Bethesda, Md) to advise on new research directions needed for improved identification and treatment of rare inherited arrhythmias. These included the following: (1) Na⁺ channelopathies; (2) arrhythmias due to K⁺ channel mutations; and (3) arrhythmias due to other inherited arrhythmogenic mechanisms. Another major goal was to provide recommendations to support, enable, or facilitate research to improve future diagnosis and management of inherited arrhythmias. Classifications of electric heart diseases have proved to be exceedingly complex and in many respects contradictory. A new contemporary and rigorous classification of arrhythmogenic cardiomyopathies is proposed. This consensus report provides an important framework and overview to this increasingly heterogeneous group of primary cardiac membrane channel diseases. Of particular note, the present classification scheme recognizes the rapid evolution of molecular biology and novel therapeutic approaches in cardiology, as well as the introduction of many recently described diseases, and is unique in that it incorporates ion channelopathies as a primary cardiomyopathy in consensus with a recent American Heart Association Scientific Statement.

Key Words: arrhythmia • cardiomyopathies • death, sudden • electrophysiology • genetics • ion channels • long-QT syndrome

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