TY - JOUR T1 - Clinical presentations leading to arrhythmogenic left ventricular cardiomyopathy JF - Open Heart JO - Open Heart DO - 10.1136/openhrt-2021-001914 VL - 9 IS - 1 SP - e001914 AU - Maddalena Graziosi AU - Raffaello Ditaranto AU - Claudio Rapezzi AU - Ferdinando Pasquale AU - Luigi Lovato AU - Ornella Leone AU - Vanda Parisi AU - Luciano Potena AU - Valentina Ferrara AU - Matteo Minnucci AU - Angelo Giuseppe Caponetti AU - Chiara Chiti AU - Alessandra Ferlini AU - Francesca Gualandi AU - Cesare Rossi AU - Alessandra Berardini AU - Giacomo Tini AU - Matteo Bertini AU - Matteo Ziacchi AU - Mauro Biffi AU - Nazzareno Galie AU - Iacopo Olivotto AU - Elena Biagini Y1 - 2022/04/01 UR - http://openheart.bmj.com/content/9/1/e001914.abstract N2 - Objectives To describe a cohort of patients with arrhythmogenic left ventricular cardiomyopathy (ALVC), focusing on the spectrum of the clinical presentations.Methods Patients were retrospectively evaluated between January 2012 and June 2020. Diagnosis was based on (1) ≥3 contiguous segments with subepicardial/midwall late gadolinium enhancement in the left ventricle (LV) at cardiac magnetic resonance plus a likely pathogenic/pathogenic arrhythmogenic cardiomyopathy (AC) associated genetic mutation and/or familial history of AC and/or red flags for ALVC (ie, negative T waves in V4-6/aVL, low voltages in limb leads, right bundle branch block like ventricular tachycardia) or (2) pathology examination of explanted hearts or autoptic cases suffering sudden cardiac death (SCD). Significant right ventricular involvement was an exclusion criterion.Results Fifty-two patients (63% males, age 45 years (31–53)) composed the study cohort. Twenty-one (41%) had normal echocardiogram, 13 (25%) a hypokinetic non-dilated cardiomyopathy (HNDC) and 17 (33%) a dilated cardiomyopathy (DCM). Of 47 tested patients, 29 (62%) were carriers of a pathogenic/likely pathogenic DNA variant. Clinical contexts leading to diagnosis were SCD in 3 (6%), ventricular arrhythmias in 15 (29%), chest pain in 8 (15%), heart failure in 6 (12%) and familial screening in 20 (38%). Thirty patients (57%) had previously received a diagnosis other than ALVC with a diagnostic delay of 6 years (IQR 1–7).Conclusions ALVC is hidden in different clinical scenarios with a phenotypic spectrum ranging from normal LV to HNDC and DCM. Ventricular arrhythmias, chest pain, heart failure and SCD are the main clinical presentations, being familial screening essential for the affected relatives’ identification.All data relevant to the study are included in the article or uploaded as supplementary information. ER -