期刊
CIRCULATION RESEARCH
卷 108, 期 5, 页码 607-618出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1161/CIRCRESAHA.110.224279
关键词
Timothy syndrome; Brugada syndrome; early repolarization syndrome; ventricular arrhythmias; electrophysiology
资金
- National Heart, Lung, and Blood Institute [HL47678]
- New York State
- Florida Grand Lodges of Free and Accepted Masons
- CARIPLO grant
The L-type cardiac calcium channel (LTCC) plays a prominent role in the electric and mechanical function of the heart. Mutations in the LTCC have been associated with a number of inherited cardiac arrhythmia syndromes, including Timothy, Brugada, and early repolarization syndromes. Elucidation of the genetic defects associated with these syndromes has led to a better understanding of molecular and cellular mechanisms and the development of novel therapeutic approaches to dealing with the arrhythmic manifestations. This review provides an overview of the molecular structure and function of the LTCC, the genetic defects in these channels known to contribute to inherited disorders, and the underlying molecular and cellular mechanisms contributing to the development of life-threatening arrhythmias. (Circ Res. 2011; 108: 607-618.)
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