1102 Rare association of left ventricular non-compaction and hypertrophic cardiomyopathy

Abstract

Abstract Background LVNC and HCM are cardiomyopathies with distinct clinical presentation that may present common genetic mutations. Some studies suggest a common genetic basis between HCM and LVNC and the possibility of a phenotypic association of these two cardiomyopathies in the same patient. Case report A 39 year old man was referred to our hospital with syncope. His past medical history was unremarkable. His father died of sudden death, at age 49, without investigation of Left ventricular non compaction (LVNC) or Hypertrophic cardiomyopathy (HCM). Physical examination was unremarkable. Electrocardiogram showed sinus rhythm with left chambers overload and isolated ventricular extrasystoles. Transthoracic Echocardiogram (TTE) evidenced significant left ventricular (LV) hypertrophy predominantly in the apical region and inferolateral wall, in the absence of a significant intraventricular gradient at rest and after provocative maneuvers, with preserved LV function, suggesting non-obstructive HCM. Cardiac magnetic resonance imaging (CMRI) showed LV hypertrophy predominantly in the lateral wall, with a maximum thickness of 35 mm, no signs of left ventricular outflow tract (LVOT) obstruction and prominent apical trabeculation, compatible with the association of LVNC and HCM. A genetic test was performed on this patient with inconclusive results. Conclusions The association of diagnostic criteria in cardiac imaging tests (TTE and CMRI) compatible with LVNC and HCM in the same patient is uncommon. This patient shows an infrequent location of the most prominent hypertrophy in the inferolateral wall.This case highlights the importance of integrating cardiac imaging methods in the diagnosis of these two disctinct and rare cardiomyopathies. Legend Figure 1: 2D TTE evidencing prominent hypertropfhy and intraventricular recesses at apical region and inferolateral wall (red arrows), abnormalities suggesting HCM and LVNC at LV apex (blue arrows) in Paraesternal Long Axis (A and B), Short Axis View (C to F), Apical 4 Chambers (G and H) and Apical 2 Chambers View (I and H). Speckle tracking analysis evidencing incipient LV systolic dysfunction by reduced global longitudinal strain (GLS:-8,9%) despite the preserved LVEF (K to N). CMR evidencing findings compatible with the association of LVNC (blue arrows) and HCM (red arrow) in 4 Chambers (O and P), 2 Chambers (Q and R) and Short Axis Views (S to V). Abstract 1102 Figure 1