分子遺伝医学

State of The Art in Clinical Management of Channelopathies and Risk of Sudden Cardiac Death

Abstract

Malagù M, Balla C, Gualandi F, Vitali F, Selvatici R, Ferlini A, Zaraket F, Del Franco A, Cimaglia P, Squeri A, Ferrari R and Bertini M

Major arrhythmias and sudden cardiac death in young and apparently healthy people are usually the first manifestation of cardiac channelopathies (CC). CC include long QT syndrome, short QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia. Identification and proper management of these diseases is a challenge for the clinical cardiologists, which could benefit from collaboration with geneticists and other physicians due to relevant genetic, molecular, biologic and psychologic implications. Medical awareness of these issues is growing fast as clinical research provides continue update. In this paper, we provide a comprehensive review of CC. The genes associated with CC and their relative role are here illustrated and summarized