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Objectives
Echocardiographic assessment of Left ventricular systolic function is traditionally being performed by estimation of fractional shortening (FS) and ejection fraction (EF). Speckle tracking echocardiography (STE) is a promising tool for assessment of myocardial function. The aim of this study is to evaluate the global longitudinal strain (GLS) using 2D‐STE in healthy neonates to establish...
Recently, ADAMTS19 was identified as a novel causative gene for autosomal recessive heart valve disease (HVD), affecting mainly the aortic and pulmonary valves. Exome sequencing and data repository (CentoMD) analyses were performed to identify patients with ADAMTS19 variants (two families). A third family was recognized based on cardiac phenotypic similarities and SNP array homozygosity. Three novel...
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