Dilated cardiomyopathy and Nav1.5

摘要

Dilated cardiomyopathy (DCM), a progressive cardiac muscle disease, and is the commonest reason for heart transplantation. Over 40 genes have been associated with DCM. In 2004, a new genetic form of cardiomyopathy, DCM 1E (MIM: *601154) associated with mutations in the SCN5A gene, was identified. SCN5A encodes the Nav1.5 sodium ion channel protein responsible for the inward current of sodium. This type of DCM is accompanied by progressive conduction disturbances, and atrial and ventricular arrhythmias. We outline and analyze the various Nav1.5 sodium channel genetic variants, molecular mechanisms of myocardial remodeling, phenotypic manifestations of known mutations, and potential implications of gene-specific treatment.