216-51: Clinical and genetic profile of arrhythmogenic cardiomyopathy with left ventricular involvement

Abstract

Background: The natural history of arrhythmogenic cardiomyopathy (AC) with left ventricular involvement appears to be different from the exclusive right ventricular disease. Our aim is to analyze the clinical and genotypic features in our series of subjects with left ventricular AC comparing to the patients with the exclusive right ventricular disease. Methods: We studied 30 patients with AC. Information of clinical variables, advanced cardiac imaging and genetic testing was collected. These variables were compared in both groups of patients with AC, who presented or not left ventricular involvement. Results: Biventricular involvement was predominant (60%). There were significant differences in the arrhythmic profile of the patients, as well as for the burden of sudden cardiac death in relatives, that appeared to have a higher incidence in families with biventricular dysplasia. Left involvement was associated with worse functional class and lower ejection fraction of both left (63.1% vs 37.2%, p > 0.01) and right ventricles, with a non-significant trend to show higher mortality from cardiovascular disease. Genetic testing was positive in 63% of the families, with a tendency toward a higher prevalence of mutations in desmoglein 2 in those who presented biventricular dysplasia. Conclusions: AC with left ventricular involvement was related to a worse functional class, a more dilated left ventricle, a lower right and left ventricle ejection fraction and a higher arrhythmic risk, mostly because of the burden of sudden cardiac death in families of patients with biventricular involvement. Genetic testing was helpful in detecting silent carriers or patients with AC in the electrical phase of the disease.