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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 affe

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

Circulation, 2007 Nov 13 , 116, 2325-45

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.

http://www.ncbi.nlm.nih.gov/pubmed/17998470