Phenotypical Manifestations of Mutations in the Genes Encoding Subunits of the Cardiac Voltage-Dependent L-Type Calcium Channel

被引：54

作者：

Napolitano, Carlo ^{[2
]}

Antzelevitch, Charles ^{[1
,3
]}

机构：

[1] Masonic Med Res Lab, Utica, NY 13501 USA

[2] IRCCS Salvatore Maugeri Fdn, Mol Cardiol Labs, Pavia, Italy

[3] NYU, Leon Charney Div Cardiol, New York, NY 10003 USA

来源：

CIRCULATION RESEARCH | 2011年 / 108卷 / 05期

关键词：

Timothy syndrome; Brugada syndrome; early repolarization syndrome; ventricular arrhythmias; electrophysiology; ST-SEGMENT ELEVATION; RECURRENT VENTRICULAR-FIBRILLATION; BUNDLE-BRANCH BLOCK; BRUGADA-SYNDROME; CA2+ CHANNEL; EARLY REPOLARIZATION; CELLULAR BASIS; TIMOTHY-SYNDROME; MOLECULAR-MECHANISM; RISK STRATIFICATION;

D O I：

10.1161/CIRCRESAHA.110.224279

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.)

引用

页码：607 / 618

页数：12

共 96 条

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