Genotype-phenotype relation study on inherited cardiac arrhythmias as ion hcannel diseases

点击翻译按钮获取中文摘要

A part of inherited arrhythmias is now known to result from a variety of genetic variants in genes encoding cardiac ion channels and their modulating proteins. There are at least two different types of genetic variants: mutations and single nucleotide polymorphism (SNP). Among the inherited arrhythmia, congenital long QT syndrome (LQTS) is a disorder defined by prolongation of the QT interval. Patients with LQTS are predisposed to fatal ventricular tachycardia - torsade de pointes (TdP) - leading to recurrent syncope or sudden cardiac death. Syncope or sudden death could be the first and the only manifestation. LQTS affects an estimated 1 in 2,000 people.