Pregnancy and progression of cardiac disease in genetic cardiomyopathies

Abstract

Genetic cardiomyopathies are hereditary cardiac diseases often diagnosed in young patients and are characterized by live-threatening arrhythmias and heart failure. Among them are arrhythmogenic (AC) and Lamin A/C cardiomyopathy. At genetic diagnosis, penetrance of the disease is often incomplete and factors promoting the disease progression are poorly recognized. Physical exercise is a hemodynamic stress and was previously associated with higher disease penetrance in AC and Lamin A/C cardiomyopathy. Pregnancy is also a hemodynamic stress, therefore with a potential detrimental effect on cardiac disease for patients with a genetic predisposition; however, the role of pregnancy as a factor potentially promoting disease progression in AC and Lamin A/C cardiomyopathy is poorly identified. The results of this thesis contributed to increase our knowledge in the field, showing no significant effect of pregnancy on long term structural and functional disease progression by echocardiography, and no major effect on arrhythmias, in AC and Lamin A/C cardiomyopathy. Additionally, we described the stages of disease progression in Lamin A/C cardiomyopathy, showing a high prevalence of electrical disease at young age, followed by left and right ventricular dysfunction, where the latter was independently associated with adverse prognosis.