Stellan Mörner

TL;DR: This is to the authors' knowledge, the first study that comprehensively investigated the genetics of DCM in a large-scale cohort and across a broad gene panel of the known DCM genes and underline the high analytical quality and feasibility of Next-Generation Sequencing in clinical genetic diagnostics.

TL;DR: Normal ageing causes a decrease in early diastolic and a substantial increase in late diastsolic myocardial lengthening velocities, which explain the known trends in the transmitral flow pattern with age.

TL;DR: Systolic myocardial velocities behaved independent of age whereas regional as well as global E/A ratio were age‐related; however, no relationship was found between regional isovolumic time intervals and age.

TL;DR: In this article, the authors identify the genotypes and associated phenotypes related to hypertrophic cardiomyopathy (HCM) in 46 unrelated individuals with familial or sporadic HCM, and mutation analysis of eight sarcomeric protein genes was performed; the cardiac β-myosin heavy chain, cardiac myosin-binding protein C, cardiac troponin T, α-tropomyosin, cardiac essential and regulatory myOSin light chains, cardiac Troponin I and cardiac αactin.

TL;DR: Evidence is provided for FHL1 to be a novel gene for isolated HCM, and previous findings of proteasome impairment in HCM suggest that FHL 1 mutant proteins may act as poison peptides, leading to hypertrophy, diastolic dysfunction and/or altered contractility, all features of HCM.