P4373Post systolic shortening in the apex of the left ventricular is a typical finding in patients with PLN mutation

Abstract

Abstract Introduction The p.Arg14del founder mutation in the gene encoding phospholamban (PLN) is associated with an increased risk of malignant ventricular arrhythmia and heart failure. Ejection fraction (EF) is the gold standard of systolic left ventricular (LV) function, however new technics using global longitudinal strain (GLS) are able to detect LV dysfunction early, e.g. in patients with chemotherapy. Moreover, strain analysis on post systolic shortening (PSS) can show distinct pattern in various diseases, e.g. patients with myocardial fibrosis and amyloid. The goal of this study was to investigate whether speckle tracking (GLS and PSS) of the LV can detect LV dysfunction in patients with PLN mutations and whether these patients have a specific PSS pattern. Method 72 Patients (49 female, mean age 32 years) diagnosed with the genetic PLN mutation p.Arg14del and 21 controls (10 female, mean age 27 years) underwent complete Echocardiographic exam including LVEF, GLS and PSI of all LV segments. LVEF <50% was considered as LV dysfunction. The diagnostic characteristics of GLS and PSI were determined. Results Pearson correlation is in PLN patients between PSI apex and EF 0.677 (P <.0001) PSI apex and GLS 0.692 (P <.0001) PLN patients appeared to have a typical pattern with a high PSI in the apical segments. An apical PSI >20 was the strongest diagnostic parameter indicating LV dysfunction. Apical PSI >20 and LVEF <50% have a sensitivity and specificity of 78% and 85%. Diagnostic characteristics PLN Controls P-value LVEF, % 55.2 59.3 0.033 GLS, % 15.5 17.3 0.163 PSI basal 8.5 10.1 0.326 PSI mid 5.6 2.9 0.070 PSI apical 15.6 2.1 0.01 LVEF, left ventricular ejection fraction; GLS, Global longitudinal strain; PSI, post systolic index. PSI Conclusion PLN patients have a typical pattern of high PSI in the apex of the left ventricular which can be used as a diagnostic test to detect LV dysfunction.