Journal ArticleDOI
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,Qing Wang +17 more
TLDR
It is shown 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.Abstract:
Ventricular fibrillation causes more than 300,000 sudden deaths each year in the USA alone. 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). A distinct group of IVF patients has been found to present with a characteristic electrocardiographic pattern. 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.read more
Citations
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Journal ArticleDOI
Sudden Cardiac Death
TL;DR: Total mortality, rather than classifications of cardiac and arrhythmic mortality, should be used as primary objectives for many outcome studies.
Journal ArticleDOI
ACC/AHA/ESC 2006 guidelines for management of patients with ventricular arrhythmias and the prevention of sudden cardiac death
Douglas P. Zipes,A. John Camm,Martin Borggrefe,Alfred E. Buxton,Bernard R. Chaitman,Martin Fromer,Gabriel Gregoratos,George J. Klein,Arthur J. Moss,Robert J. Myerburg,Silvia G. Priori,Miguel A. Quinones,Dan M. Roden,Michael J. Silka,Cynthia M. Tracy,Jean-Jacques Blanc,Andrzej Budaj,Veronica Dean,Jaap W. Deckers,Catherine Despres,Kenneth Dickstein,John Lekakis,Keith McGregor,Marco Metra,João Morais,Ady Osterspey,Juan Tamargo,José Luis Zamorano,Sidney C. Smith,Alice K. Jacobs,Cynthia D. Adams,Elliott M. Antman,Jeffrey L. Anderson,Sharon A. Hunt,Jonathan L. Halperin,Rick A. Nishimura,Joseph P. Ornato,Richard L. Page,Barbara Riegel +38 more
TL;DR: This guideline is pleased to have this guideline developed in conjunction with the European Society of Cardiology (ESC) and to have been selected from all 3 organizations to examine subject-specific data and write guidelines.
Journal ArticleDOI
From Ionic Currents to Molecular Mechanisms: The Structure and Function of Voltage-Gated Sodium Channels
TL;DR: Together, these studies showed that the mechanisms of sodium channel function and regulation, purified sodium channel protein contained the essential and gives a perspective for future research on the ex-elements for ion conduction and voltage-dependent panding family of Sodium channel proteins.
Journal ArticleDOI
ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death: A Report of the American College of Cardiology/American Heart Association Task Force and the European Society of Cardiology Committee for Practice Guidelines (Writing Committee to Develop Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death)
Douglas P. Zipes,A. John Camm,Martin Borggrefe,Alfred E. Buxton,Bernard R. Chaitman,Martin Fromer,Gabriel Gregoratos,George Klein,Arthur J. Moss,Robert J. Myerburg,Silvia G. Priori,Miguel A. Quinones,Dan M. Roden,Michael J. Silka,Cynthia M. Tracy +14 more
TL;DR: In this article, the medical profession plays a significant role in critically evaluating the use of diagnostic procedures and therapies as they are introduced and tested in the detection, management, or prevention of disease states.
Journal ArticleDOI
Brugada Syndrome: Report of the Second Consensus Conference Endorsed by the Heart Rhythm Society and the European Heart Rhythm Association
Charles Antzelevitch,Pedro Brugada,Martin Borggrefe,Josep Brugada,Ramon Brugada,Domenico Corrado,Ihor Gussak,Herve LeMarec,Koonlawee Nademanee,Andrés Ricardo Pérez Riera,Wataru Shimizu,Eric Schulze-Bahr,H.L. (Hanno) Tan,Arthur A.M. Wilde +13 more
TL;DR: The present report elaborates further on the diagnostic criteria and examines risk stratification schemes and device and pharmacological approaches to therapy on the basis of the available clinical and basic science data.
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Journal ArticleDOI
Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
Pedro Brugada,Josep Brugada +1 more
TL;DR: Common clinical and ECG features define a distinct syndrome in this group of patients with recurrent episodes of aborted sudden death unexplainable by currently known diseases, not explainable by electrolyte disturbances, ischemia or structural heart disease.
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Journal ArticleDOI
SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
Qing Kenneth Wang,Jiaxiang Shen,Jiaxiang Shen,Igor Splawski,Donald L. Atkinson,Donald L. Atkinson,Zhizhong Li,Jennifer L. Robinson,Arthur J. Moss,Jeffrey A. Towbin,Mark T. Keating +10 more
TL;DR: Genetic linkage between LQT3 and polymorphisms within SCN5A, the cardiac sodium channel gene, and single strand conformation polymorphism and DNA sequence analyses suggest that mutations in SCN 5A cause chromosome 3-linked LQt and indicate a likely cellular mechanism for this disorder.
Journal ArticleDOI
Structural parts involved in activation and inactivation of the sodium channel.
Walter Stühmer,Franco Conti,Harukazu Suzuki,Xiaodong Wang,Masaharu Noda,Naoki Yahagi,Hideo Kubo,Shosaku Numa +7 more
TL;DR: Evidence is provided that the positive charges in segment S4 are involved in the voltage–sensing mechanism for activation of the channel and that the region between repeats III and IV is important for its inactivation.
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Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report.
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