P2250Role of family screening and genetic testing in left ventricular noncompaction

Background/Introduction: Left ventricular noncompaction (LVNC) pathogenesis is not fully understood and both inherited and sporadic cases may occur. Clinical diagnosis is only based on morphologic features by echocardiography or cardiac MR (CMR). There are few reports on family aggregation and genetic test results in series of LVNC patients. Purpose: The aim of this study is to evaluate the role of family screening and genetic testing in a cohort of patients with imaging criteria of LVNC. Methods: Patients who fulfilled both echocardiographic and CMR criteria for LVNC were included and prospectively followed up in a cardiomyopathy unit. Family imaging screening was offered to all of them and was considered positive if one or more relatives fulfilled both echo and CMR criteria for LVNC (2 or more positive cases in the family). Multi-gene panel testing was performed in case of positive family screening or sporadic LVNC case associated with cardiomyopathy (LVEF<50%). It consisted of a gene panel related to the main cardiovascular diseases and especially to LVNC. It was considered positive if a pathogenic or probably pathogenic variant was identified in a gene with a well-established causality for LVNC.