Genetic basis and molecular mechanism for idiopathic ventricular fibrillation

Qiuyun Chen, Glenn E. Kirsch, Danmei Zhang, Ramon Brugada, Josep Brugada, Pedro Brugada, Domenico Potenza, Angel Moya, Martin Borggrefe, Günter Breithardt, Rocio Ortiz-Lopez, Zhiqing Wang, Charles Antzelevitch, Richard E. O'Brien, Eric Schulze-Bahr, Mark T. Keating, Jeffrey A. Towbin and Qing Wang ()
Additional contact information
Qiuyun Chen: Baylor College of Medicine
Glenn E. Kirsch: The Rammelkamp Center for Research, MetroHealth Campus, Case Western Reserve University
Danmei Zhang: Baylor College of Medicine
Ramon Brugada: Medicine (Cardiology), Baylor College of Medicine
Josep Brugada: Arrhythmia Unit, Cardiovascular Institute, Hospital Clinic, University of Barcelona
Pedro Brugada: The Cardiovascular Center, OLV Hospital
Domenico Potenza: IRCCS Casa Sollievo della Sofferenza
Angel Moya: Hospital Vall d'Hebron
Martin Borggrefe: Institute of Arteriosclerosis Research, Hospital of the University of Munster
Günter Breithardt: Institute of Arteriosclerosis Research, Hospital of the University of Munster
Rocio Ortiz-Lopez: Baylor College of Medicine
Zhiqing Wang: Cardiovasascular Sciences, Baylor College of Medicine
Charles Antzelevitch: Masonic Medical Research Laboratory
Richard E. O'Brien: Baylor College of Medicine
Eric Schulze-Bahr: Institute of Arteriosclerosis Research, Hospital of the University of Munster
Mark T. Keating: Howard Hughes Medical Institute, University of Utah
Jeffrey A. Towbin: Baylor College of Medicine
Qing Wang: Baylor College of Medicine

Nature, 1998, vol. 392, issue 6673, 293-296

Abstract: Abstract Ventricular fibrillation causes more than 300, 000 sudden deaths each year in the USA alone1,2. In approximately 5–12% of these cases, there are no demonstrable cardiac or non-cardiac causes to account for the episode, which is therefore classified as idiopathic ventricular fibrillation (IVF)3,4,5,6. A distinct group of IVF patients has been found to present with a characteristic electrocardiographic pattern7,8,9,10,11,12,13,14,15. Because of the small size of most pedigrees and the high incidence of sudden death, however, molecular genetic studies of IVF have not yet been done. Because IVF causes cardiac rhythm disturbance, we investigated whether malfunction of ion channels could cause the disorder by studying mutations in the cardiac sodium channel gene SCN5A. We have now identified a missense mutation, a splice-donor mutation, and a frameshift mutation in the coding region of SCN5A in three IVF families. We show that sodium channels with the missense mutation recover from inactivation more rapidly than normal and that the frameshift mutation causes the sodium channel to be non-functional. Our results indicate that mutations in cardiac ion-channel genes contribute to the risk of developing IVF.

Date: 1998
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DOI: 10.1038/32675

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