Inherited Cardiac Arrhythmia Syndromes
نویسندگان
چکیده
Lethal cardiac arrhythmias in individuals with structurally normal heart are often caused by variants in genes that encode cardiac ion channel and -subunits (102). Common inherited arrhythmia syndromes include the congenital long QT syndrome (LQTS), Brugada syndrome (BrS), short QT syndrome (SQT), and catecholaminergic polymorphic ventricular tachycardia (CPVT) (76). Moreover, inherited mutations in these ion channel subunits may underlie a significant proportion of sudden infant death syndrome (SIDS) cases (93). The physiological consequences of mutations in and -subunits associated with these arrhythmia syndromes have been extensively reviewed in other papers (69, 82). Recent genetic studies have revealed that inherited mutations in genes encoding additional regulatory and targeting proteins associated with ion channels may also cause cardiac arrhythmias (67, 96). The physiological consequences of inherited mutations in these signaling and targeting proteins may include abnormal channel localization within a cellular microdomain or ion channel-gating defects due to allosteric effects. Recent studies suggest that defective protein-protein interactions within cardiac macromolecular channel assemblies may also contribute to the pathogenesis of arrhythmias in patients with structural heart disease (e.g., cardiomyopathy and heart failure). Therefore, we will also discuss one such example, namely acquired defects in the ryanodine receptor/intracellular Ca2+ release channel complex (46, 99).
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