Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank

SJ Jurgens, SH Choi, VN Morrill, M Chaffin… - Nature …, 2022 - nature.com
Cardiometabolic diseases are the leading cause of death worldwide. Despite a known
genetic component, our understanding of these diseases remains incomplete. Here, we …

Emerging Techniques for Risk Stratification in Nonischemic Dilated Cardiomyopathy: JACC Review Topic of the Week

BA Marrow, SA Cook, SK Prasad… - Journal of the American …, 2020 - jacc.org
Dilated cardiomyopathy (DCM) is a common condition, which carries significant mortality
from sudden cardiac death and pump failure. Left ventricular ejection fraction has …

Genetic basis and molecular biology of cardiac arrhythmias in cardiomyopathies

AJ Marian, B Asatryan, XHT Wehrens - Cardiovascular research, 2020 - academic.oup.com
Cardiac arrhythmias are common, often the first, and sometimes the life-threatening
manifestations of hereditary cardiomyopathies. Pathogenic variants in several genes known …

Implications of genetic testing in dilated cardiomyopathy

JAJ Verdonschot, MR Hazebroek… - Circulation: Genomic …, 2020 - Am Heart Assoc
Background: Genetic analysis is a first-tier test in dilated cardiomyopathy (DCM). Electrical
phenotypes are common in genetic DCM, but their exact contribution to the clinical course …

Exome sequencing highlights a potential role for concealed cardiomyopathies in youthful sudden cardiac death

R Neves, DJ Tester, MA Simpson, ER Behr… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Sudden cardiac arrest (SCA) and sudden unexplained death (SUD) are feared
sequelae of many genetic heart diseases. In rare circumstances, pathogenic variants in …

[HTML][HTML] Identification of SCN5a p.C335R Variant in a Large Family with Dilated Cardiomyopathy and Conduction Disease

F Sedaghat-Hamedani, S Rebs, I El-Battrawy… - International Journal of …, 2021 - mdpi.com
Introduction: Familial dilated cardiomyopathy (DCM) is clinically variable and has been
associated with mutations in more than 50 genes. Rapid improvements in DNA sequencing …

Assessing the association between genetic and phenotypic features of dilated cardiomyopathy and outcome in patients with coronary artery disease

RE Jones, DJ Hammersley, S Zheng… - European Journal of …, 2024 - Wiley Online Library
Aims To examine the relevance of genetic and cardiovascular magnetic resonance (CMR)
features of dilated cardiomyopathy (DCM) in individuals with coronary artery disease (CAD) …

Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences

CR Vissing, TB Rasmussen, AM Dybro… - Journal of Medical …, 2021 - jmg.bmj.com
Background Truncating variants in titin (TTNtv) are the most common cause of dilated
cardiomyopathy (DCM). We evaluated the genotype-phenotype correlation in TTNtv-DCM …

[HTML][HTML] Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

G Huang, A Bisaria, DL Wakefield, TM Yamawaki… - Stem cell reports, 2023 - cell.com
Titin-truncating variants (TTNtv) are the single largest genetic cause of dilated
cardiomyopathy (DCM). In this study we modeled disease phenotypes of A-band TTNtv …

[HTML][HTML] Diagnosis and risk prediction of dilated cardiomyopathy in the era of big data and genomics

A Sammani, AF Baas, FW Asselbergs… - Journal of clinical …, 2021 - mdpi.com
Dilated cardiomyopathy (DCM) is a leading cause of heart failure and life-threatening
ventricular arrhythmias (LTVA). Work-up and risk stratification of DCM is clinically …