Analysis of SCN5A Gene Variants in East Slovak Patients with Cardiomyopathy

摘要

Mutations in ion channels genes are potential cause of cardiomyopathy. The 5A gene (sodium channel, voltage gated, type V alpha subunit gene; 3p21) belongs to the family of cardiac sodium channel genes. Mutations in 5A gene lead to decreased Na+ current and ion unbalance. The 5A gene mutations are found in approximately 2% of patients with dilated cardiomyopathy (DCM), and they may be potential phenotype modifiers in hypertrophic cardiomyopathy (HCM). The role of 5A gene mutations in cardiomyopathy is not fully elucidated.