SCN5A-A Mechanistic Link Between Inherited Cardiomyopathies and a Predisposition to Arrhythmias?

摘要

A WIDE VARIETY OF GENETIC DISORDERS HAVE BEEN recognized in patients with idiopathic dilated cardiomyopathy (IDC). Mutations in contractile proteins, such as troponin and titin, have been demonstrated.23 Mitochondrial transfer RNA (tRNA) abnormalities have been found in patients with hearing disorders and maternally inherited cardiomyopathy.4 Furthermore, specific abnormalities in immune function may result in IDC. Cohorts of patients with IDC have been noted to have anticardiac antibodies, altered immunoglobulin absorption, and abnormal cytokine profiles.