Diego García-Giustiniani

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: In this article, the authors demonstrate the association between truncating mutations in the Filamin C (FLNC) gene and the development of high-risk dilated and arrhythmogenic cardiomyopathies.

TL;DR: The novel DES-p.Glu401Asp mutation causes predominant inherited left ventricular arrhythmogenic cardiomyopathy/dysplasia with a high incidence of adverse clinical events in the absence of skeletal myopathy or conduction system disorders.

TL;DR: FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases, and the phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts.

TL;DR: Mutations in the converter region of β myosin heavy chain are generally associated with adverse prognosis although there are differences between mutations.