1040 Unexpected prevalence of subtle systolic and diastolic dysfunction in genotype-positive phenotype-negative relatives of dilated cardiomyopathy patients
Abstract Funding Acknowledgements None Background Left ventricular global longitudinal strain (LV-GLS) and peak left atrial longitudinal strain (PALS) are promising techniques for the detection of a subtle systolic and diastolic dysfunction for an early diagnosis of genetically determined dilated cardiomyopathy (DCM). Purpose. We sought to evaluate the prevalence of subtle systolic and diastolic dysfunction by LV-GLS and PALS in a cohort of genotype-positive phenotype-negative (GPFN) DCM relatives. Methods. We analysed echocardiograms (including LV-GLS and PALS) of 41 GPFN relatives of DCM patients (GPFN group - 37 ± 14 years, 48.8% male). They were compared with a matched group of 52 healthy individuals (control group). Reduced LV-GLS and PALS were defined as >-18% and <23.1%, respectively, according to literature data. Results. GPFN and control groups were grossly similar according to standard echocardiographic measurements. Conversely, mean LV-GLS was -18.8 ± 2.7% in the GPFN group vs. -24.0 ± 1.8% in the control group (p < 0.001). 20 subjects (48.8%) in the GPFN group and no subjects in the control group had a reduced LV-GLS. The mean PALS was 29.2 ± 6.7% in the GPFN group vs. 40.8 ± 8.5% in the control group (p < 0.001). 7 subjects (18.4%) in the GPFN group and one (2%) in the control group had a reduced PALS. During a median follow-up of 27 months, 6 (14.6%) GPFN relatives developed a LV ejection fraction <50%. Among them, 4 (66%) had a reduced LV-GLS at initial evaluation. Conclusions. LV-GLS and PALS are impaired in GPFN relatives of DCM patients compared to healthy individuals, when standard echocardiographic parameters are normal. Further studies are warranted to add prognostic significance to this result, which may lead in the future to an early therapy initiation. Abstract 1040 Figure. Mean LV-GLS and PALS in GPFN and control