Description

Familial dilated cardiomyopathy (DCM) is a disease of the heart muscle, characterized by ventricular dilation and reduced systolic function. Patients manifest heart failure, arrhythmia and increased risk of sudden death. The prevalence of DCM is 1 / 2,500, with an incidence of 7 / 100,000 cases per year (but is probably underdiagnosed). In many cases, the disease is hereditary and is therefore called familial DCM (FDC). FDC accounts for 20-48% of DCM cases and is caused by mutations in the FDC genes, which code for cytoskeletal and sarcomere of cardiac muscle cells. Family history is important for identifying families with FDCs. Criteria for the diagnosis of these families have been used and their use in clinical practice is becoming more and more frequent. In recent years genetic testing is being developed for the evaluation of families with FDC and will be increasingly useful in clinical practice. The screening of families through genealogical study and / or genetic tests makes it possible to identify patients at an early stage or in a presymptomatic phase. In this way, it is possible to apply an early drug therapy, so as to probably influence the course of the disease. Genetic counseling is important for identifying other asymptomatic subjects in the family, who are at risk of developing symptoms so that they can undergo regular checkups. The treatment of FCD is aimed at controlling the progression of heart failure and arrhythmias and is based on the use of guidelines for the treatment of DCM. The treatment foreseen by the generic measures (limitation of sales and liquids, control of hypertension, limitation of alcohol intake, control of body weight, moderate exercise) and pharmacological therapy. The use of cardiac resynchronization, implantable cardioverter defibrillators and left ventricular function assist devices is expanding. Patients with severe heart failure have severe survival problems and may need heart transplantation.