938 ARRHYTHMOGENIC CARDIOMYOPATHY IN A PATIENT CARRYING A PATHOGENIC LMNA VARIANT

Abstract

Abstract Background Lamin A (LMNA) protein is one of the main constituents of the nuclear lamina. Pathogenic variants of LMNA gene have been demonstrated to be linked to a wide spectrum of disorders, including cardiac diseases. The first reported heart disease linked to LMNA was dilated cardiomyopathy (DCM), in a form typically characterized by the presence of conduction disorders and high incidence of sudden cardiac death (SCD) disrespectfully of left ventricular systolic function. Genetic variants of the same gene have been associated with Arrhythmogenic Cardiomyopathy (ACM), but its putative role as disease causing gene is still debated. Case summary a man with positive familial history for DCM presented to the Emergency Department because of palpitations. The electrocardiogram showed first degree AV-block, complete right bundle branch block and low QRS voltages on limb leads. Cardiac magnetic resonance revealed severe dilatation of the right ventricle with wall motion abnormalities in keeping with ACM, associated with mild dilatation and moderate dysfunction of left ventricle. The genetic test identified a pathogenic variant in LMNA. Moreover, non-sustained ventricular tachycardias were present on the ECG Holter. According to international guidelines on SCD prevention, the patient underwent ICD implantation, with one appropriate ICD discharge on a sustained ventricular tachycardia episode after few months. Discussion LMNA pathogenic variants can lead to a broad spectrum of cardiac manifestations, including Arrhythmogenic Cardiomyopathy. A genetic test should be considered if there is a familial cardiomyopathy associated with conduction disorders, in order to achieve a proper risk stratification for sudden death.