Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association

B Bozkurt, M Colvin, J Cook, LT Cooper, A Deswal… - Circulation, 2016 - Am Heart Assoc
The first classification on this topic categorized cardiomyopathies as heart muscle diseases
with dilated (DCM), hypertrophic, restrictive, arrhythmogenic right ventricular (ARVC), or …

Dilated cardiomyopathy: the complexity of a diverse genetic architecture

RE Hershberger, DJ Hedges, A Morales - Nature reviews cardiology, 2013 - nature.com
Remarkable progress has been made in understanding the genetic basis of dilated
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …

Update 2011: clinical and genetic issues in familial dilated cardiomyopathy

RE Hershberger, JD Siegfried - Journal of the American College of …, 2011 - jacc.org
A great deal of progress has recently been made in the discovery and understanding of the
genetics of familial dilated cardiomyopathy (FDC). A consensus has emerged that with a …

Inherited cardiomyopathies

JA Towbin - Circulation Journal, 2014 - jstage.jst.go.jp
Cardiomyopathies (ie, diseases of the heart muscle) are major causes of morbidity and
mortality. A significant percentage of patients with cardiomyopathies have genetic-based …

Left ventricular noncompaction: a new form of heart failure

JA Towbin - Heart Failure Clinics, 2010 - heartfailure.theclinics.com
Left ventricular noncompaction (LVNC), characterized by excessive and unusual
trabeculation of the mature left ventricle (LV), has been considered to be a developmental …

Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies

B Meder, J Haas, A Keller, C Heid, S Just… - Circulation …, 2011 - Am Heart Assoc
Background—Today, mutations in more than 30 different genes have been found to cause
inherited cardiomyopathies, some associated with very poor prognosis. However, because …

[HTML][HTML] The role of mutations in the SCN5A gene in cardiomyopathies

E Zaklyazminskaya, S Dzemeshkevich - Biochimica et Biophysica Acta …, 2016 - Elsevier
The SCN5A gene encodes the alpha-subunit of the Na v 1.5 ion channel protein, which is
responsible for the sodium inward current (I Na). Since 1995 several hundred mutations in …

[HTML][HTML] Modeling of lamin A/C mutation premature cardiac aging using patient-specific induced pluripotent stem cells

CW Siu, YK Lee, JCY Ho, WH Lai, YC Chan… - Aging (Albany …, 2012 - ncbi.nlm.nih.gov
AIMS We identified an autosomal dominant non-sense mutation (R225X) in exon 4 of the
lamin A/C (LMNA) gene in a Chinese family spanning 3 generations with familial dilated …

R222Q SCN5A Mutation Is Associated With Reversible Ventricular Ectopy and Dilated Cardiomyopathy

SA Mann, ML Castro, M Ohanian, G Guo… - Journal of the American …, 2012 - jacc.org
Objectives: The goal of this study was to characterize a variant in the SCN5A gene that
encodes the alpha-subunit of the cardiac sodium channel, Nav1. 5, which was identified in 1 …

Modeling structural and functional deficiencies of RBM20 familial dilated cardiomyopathy using human induced pluripotent stem cells

SP Wyles, X Li, SC Hrstka, S Reyes… - Human molecular …, 2016 - academic.oup.com
Dilated cardiomyopathy (DCM) is a leading cause of heart failure. In families with autosomal-
dominant DCM, heterozygous missense mutations were identified in RNA-binding motif …