Current diagnostic and treatment strategies for specific dilated cardiomyopathies: a scientific statement from the American Heart Association
The first classification on this topic categorized cardiomyopathies as heart muscle diseases
with dilated (DCM), hypertrophic, restrictive, arrhythmogenic right ventricular (ARVC), or …
with dilated (DCM), hypertrophic, restrictive, arrhythmogenic right ventricular (ARVC), or …
Dilated cardiomyopathy: the complexity of a diverse genetic architecture
Remarkable progress has been made in understanding the genetic basis of dilated
cardiomyopathy (DCM). Rare variants in> 30 genes, some also involved in other …
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 …
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 …
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 …
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
Background—Today, mutations in more than 30 different genes have been found to cause
inherited cardiomyopathies, some associated with very poor prognosis. However, because …
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 …
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 …
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 …
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
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 …
dominant DCM, heterozygous missense mutations were identified in RNA-binding motif …