Dilated cardiomyopathy: genetic determinants and mechanisms

EM McNally, L Mestroni - Circulation research, 2017 - Am Heart Assoc
Nonischemic dilated cardiomyopathy (DCM) often has a genetic pathogenesis. Because of
the large number of genes and alleles attributed to DCM, comprehensive genetic testing …

Targeting the sarcomere in inherited cardiomyopathies

SJ Lehman, C Crocini, LA Leinwand - Nature Reviews Cardiology, 2022 - nature.com
Variants in> 12 genes encoding sarcomeric proteins can cause various cardiomyopathies.
The two most common are hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy …

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 …

Dilated cardiomyopathy

RG Weintraub, C Semsarian, P Macdonald - The Lancet, 2017 - thelancet.com
Dilated cardiomyopathy is defined by the presence of left ventricular dilatation and
contractile dysfunction. Genetic mutations involving genes that encode cytoskeletal …

Genetics of dilated cardiomyopathy: practical implications for heart failure management

AN Rosenbaum, KE Agre, NL Pereira - Nature Reviews Cardiology, 2020 - nature.com
Given the global burden of heart failure, strategies to understand the underlying cause or to
provide prognostic information are critical to reducing the morbidity and mortality associated …

Clinical and mechanistic insights into the genetics of cardiomyopathy

MA Burke, SA Cook, JG Seidman… - Journal of the American …, 2016 - jacc.org
Over the last quarter-century, there has been tremendous progress in genetics research that
has defined molecular causes for cardiomyopathies. More than a thousand mutations have …

Truncations of titin causing dilated cardiomyopathy

DS Herman, L Lam, MRG Taylor, L Wang… - … England Journal of …, 2012 - Mass Medical Soc
Background Dilated cardiomyopathy and hypertrophic cardiomyopathy arise from mutations
in many genes. TTN, the gene encoding the sarcomere protein titin, has been insufficiently …

[HTML][HTML] Interpretation of genomic sequencing results in healthy and ill newborns: results from the BabySeq Project

O Ceyhan-Birsoy, JB Murry, K Machini, MS Lebo… - The American Journal of …, 2019 - cell.com
Genomic sequencing provides many opportunities in newborn clinical care, but the
challenges of interpreting and reporting newborn genomic sequencing (nGS) results need to …

Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease

AM Roberts, JS Ware, DS Herman, S Schafer… - Science translational …, 2015 - science.org
The recent discovery of heterozygous human mutations that truncate full-length titin (TTN, an
abundant structural, sensory, and signaling filament in muscle) as a common cause of end …

Titin mutations in iPS cells define sarcomere insufficiency as a cause of dilated cardiomyopathy

JT Hinson, A Chopra, N Nafissi, WJ Polacheck… - Science, 2015 - science.org
Human mutations that truncate the massive sarcomere protein titin [TTN-truncating variants
(TTNtvs)] are the most common genetic cause for dilated cardiomyopathy (DCM), a major …