Interpretation and actionability of genetic variants in cardiomyopathies: a position statement from the European Society of Cardiology Council on cardiovascular …
This document describes the contribution of clinical criteria to the interpretation of genetic
variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist …
variants using heritable Mendelian cardiomyopathies as an example. The aim is to assist …
Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy
M Gigli, M Merlo, SL Graw, G Barbati… - Journal of the American …, 2019 - jacc.org
Background: Genotype-phenotype correlations in dilated cardiomyopathy (DCM) and, in
particular, the effects of gene variants on clinical outcomes remain poorly understood …
particular, the effects of gene variants on clinical outcomes remain poorly understood …
Genetics of dilated cardiomyopathy: clinical implications
A Paldino, G De Angelis, M Merlo, M Gigli… - Current cardiology …, 2018 - Springer
Abstract Purpose of Review This review aims to summarize the current knowledge on the
genetic background of dilated cardiomyopathy (DCM), with particular attention to the …
genetic background of dilated cardiomyopathy (DCM), with particular attention to the …
Next-generation sequencing gene panels in Inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown …
The diffusion of next-generation sequencing (NGS)-based approaches allows for the
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …
Primary myocardial fibrosis as an alternative phenotype pathway of inherited cardiac structural disorders
Background: Myocardial fibrosis is a common postmortem finding among young individuals
with sudden cardiac death. Because there is no known single cause, we tested the …
with sudden cardiac death. Because there is no known single cause, we tested the …
[HTML][HTML] Current perspectives on the diagnosis and management of dilated cardiomyopathy Beyond heart failure: a Cardiomyopathy Clinic Doctor's point of view
A Bakalakos, K Ritsatos, A Anastasakis - Hellenic Journal of Cardiology, 2018 - Elsevier
Left ventricular enlargement and dysfunction are fundamental components of dilated
cardiomyopathy (DCM). DCM is a major cause of heart failure and cardiac transplantation. A …
cardiomyopathy (DCM). DCM is a major cause of heart failure and cardiac transplantation. A …
Exome sequencing–based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death
Purpose: Sudden death in the young is a devastating complication of inherited heart
disorders. Finding the precise cause of death is important, but it is often unresolved after …
disorders. Finding the precise cause of death is important, but it is often unresolved after …
[HTML][HTML] Analysis of the role of glucose metabolism-related genes in dilated cardiomyopathy based on bioinformatics
K Chen, Y Shi, H Zhu - Journal of Thoracic Disease, 2023 - ncbi.nlm.nih.gov
Background Dilated cardiomyopathy (DCM) is a prevalent condition with diverse etiologies,
including viral infection, autoimmune response, and genetic factors. Despite the crucial role …
including viral infection, autoimmune response, and genetic factors. Despite the crucial role …
Dilated cardiomyopathy caused by a pathogenic nucleotide variant in RBM20 in an Iranian family
M Malakootian, M Bagheri Moghaddam… - BMC Medical …, 2022 - Springer
Introduction Dilated cardiomyopathy (DCM) is characterized by the dilation and impaired
contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of …
contraction of 1 or both ventricles and can be caused by a variety of disorders. Up to 50% of …
Inherited cardiomyopathies and sports participation
Competitive sports activity is associated with an increased risk of sudden cardiovascular
death in adolescents and young adults with inherited cardiomyopathies. Many young …
death in adolescents and young adults with inherited cardiomyopathies. Many young …