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.
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.
Lehnart
Stephan E
SE
Department of Physiology and Cellular Biophysics, Clyde and Helen Wu Center for Molecular Cardiology, College of Physicians and Surgeons of Columbia University, P&S 9-401 box 22, 630 W 168 St, New York, NY 10032, USA. sel2004@columbia.edu
Ackerman
Michael J
MJ
Benson
D Woodrow
DW
Brugada
Ramon
R
Clancy
Colleen E
CE
Donahue
J Kevin
JK
George
Alfred L
AL
Grant
Augustus O
AO
Groft
Stephen C
SC
January
Craig T
CT
Lathrop
David A
DA
Lederer
W Jonathan
WJ
Makielski
Jonathan C
JC
Mohler
Peter J
PJ
Moss
Arthur
A
Nerbonne
Jeanne M
JM
Olson
Timothy M
TM
Przywara
Dennis A
DA
Towbin
Jeffrey A
JA
Wang
Lan-Hsiang
LH
Marks
Andrew R
AR
D001145:Arrhythmias, Cardiac / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D053447:Channelopathies / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D006801:Humans; D008133:Long QT Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009154:Mutation; D054555:National Heart, Lung, and Blood Institute (U.S.); D010641:Phenotype; D014481:United States