Myocardial diseases: Current views on etiopathogenesis, diagnostic modalities, and therapeutic options

According to current European classification, cardiomyopathies are defined as myocardial disorders that cannot be explained by coronary artery disease or abnormal loading conditions including valvular and congenital diseases. Six specific morphological and functional phenotypes are distinguished: hypertrophic, dilated, restrictive, and arrhythmogenic right ventricular cardiomyopathy together with two unclassified subtypes: Tako-tsubo and left ventricular noncompaction cardiomyopathies. In almost all of these phenotypes, inherited forms may be found; moreover, in some of them—for example, in hypertrophic cardiomyopathy—a genetic origin is even a rule. Therefore, genetic counseling shall be an integral part of the state-of-the-art care of patients with heart muscle disorders. The affected individuals together with their relatives have to be informed about the genetic basis of their disease and the potential risk for other family members. A detailed cardiac evaluation, including ECG and echocardiography (in some cases also Holter ECG monitoring), of first-degree relatives is necessary with their further regular follow-up. If available, genetic testing shall be discussed with the patients as it may improve their management as well as enable effective preventive genetic testing in other relatives