Over the last three decades, the field of genetic cardiac arrhythmia diseases has transformed to where genetic testing has become an integral part of diagnosis, treatment and follow-up, including family evaluation. In fact, in some cases these genetic discoveries have enabled pre-clinical diagnosis thereby possibly preventing one of its most devastating, and sometimes sentinel, event of sudden cardiac death (SCD). This is certainly true for the cardiac channelopathies, heritable cardiac arrhythmia syndromes caused by abnormal ion channel function clinically leading to syncope, seizures, and SCD, often in the setting of a structurally normal heart. These inherited and potentially lethal arrhythmia disorders include a variety of diseases, of which the most common ones-long QT syndrome (LQTS), Brugada syndrome (BrS), and catecholaminergic polymorphic ventricular tachycardia (CPVT)-will be discussed in this chapter. As will be outlined, not only can genetics help (or complicate) diagnosis of these channelopathies, important genotype-phenotype correlations have emerged that might aid in risk stratification for these conditions, and genotype specific therapies are available in certain situations. NR - 66 PU - SPRINGER INTERNATIONAL PUBLISHING AG PI - CHAM PA - GEWERBESTRASSE 11, CHAM, CH-6330, SWITZERLAND
CITATION STYLE
Bos, J. M., & Ackerman, M. J. (2017). Channelopathies: Clinical Presentation and Genetics (pp. 37–47). https://doi.org/10.1007/978-3-319-58000-5_4
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