Key result
Mutations in cardiac ion channel genes such as SCN5A, KCNQ1, RYR2, and HCN4 underlie systemic nonarrhythmic phenotypes including cardiomyopathy, epilepsy, and gastrointestinal disorders.
Recognizing that cardiac ion channel gene mutations can cause overlapping nonarrhythmic phenotypes like cardiomyopathy is crucial for comprehensive patient evaluation and management.
Cardiac ion channelopathies are an important cause of sudden death in the young and include long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, and short QT syndrome. Genes that encode ion channels have been implicated in all of these conditions, leading to the widespread implementation of genetic testing for suspected channelopathies. Over the past half-century, researchers have also identified systemic pathologies that extend beyond the arrhythmic phenotype in patients with ion channel gene mutations, including deafness, epilepsy, cardiomyopathy, periodic paralysis, and congenital heart disease. A coexisting phenotype, such as cardiomyopathy, can influence evaluation and management. However, prior to recent molecular advances, our understanding and recognition of these overlapping phenotypes were poor. This review highlights the systemic and structural heart manifestations of the cardiac ion channelopathies, including their phenotypic spectrum and molecular basis.
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Roston et al. (2017) conducted a review in Cardiac ion channelopathies. Cardiac ion channel gene mutations was evaluated. Mutations in cardiac ion channel genes such as SCN5A, KCNQ1, RYR2, and HCN4 underlie systemic nonarrhythmic phenotypes including cardiomyopathy, epilepsy, and gastrointestinal disorders.
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