Dilated cardiomyopathy caused by p.E446K mutation in SCN5A gene

Dilated cardiomyopathy (DCM) is myocardial disorder characterized by progressive heart chambers enlargement and impairment of myocardial contractility. This disorder is the most common cause of advanced heart failure requiring the heart transplantation. The prevalence of the disease is 36.5 per 100 000 in population. About 20-30% of cases are familial. Disease is genetically heterogenous, there more than 100 genes when mutated can give rise a DCM. In 2004, the role of SCN5A gene mutations was shown in origin of DCM with cardiac conduction defects and arrhythmias. In this work we present a clinical case of dilated cardiomyopathy with cardiac arrhythmias and p.E446K mutation in SCN5A gene. We have observed DCM with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital heart defect (atrium septal defect) in two generations. The congenital heart defect did not co-segregate with SCN5A mutation and DCM.