Recommendations for the management of cardiomyopathy mutation carriers: evidence, doubts and intentions

Abstract

Some cardiomyopathies are hereditary or, at least, have been associated with a familial predilection. Morbidity and mortality can be caused by heart failure, sudden death, or arrhythmias. Sometimes these events are the first manifestations of cardiovascular disease. Hypertrophic Cardiomyopathy and Arrhythmogenic Right Ventricular Cardiomyopathy are perhaps most thoroughly studied in that context. Dilated Cardiomyopathy, although most frequently of secondary etiology, has a significant familial cluster. Noncompaction of the left ventricle can sometimes be seen in healthy individuals and, in other instances is associated with severe LV dysfunction. Genetic testing is of utmost importance since it might allow the identification of individuals carrying mutations predisposing to these diseases. Also, certain variants may benefit from tailored therapeutic regimens and thus, searching for a causal mutation can impact clinical practice. It is recommended for all patients with HCM, or ARVC. Patients with DCM and positive family history should be included as well. Regular follow-ups are advised, even in those with negative phenotypes, because these disorders are often age-dependent. During pregnancy and in the case of athletes' special consideration should be made as well. We intend to summarize the most current evidence regarding their management.