Genetics of congenital heart disease

AA Richards, V Garg - Current cardiology reviews, 2010 - ingentaconnect.com
Cardiovascular malformations are the most common type of birth defect and result in
significant mortality worldwide. The etiology for the majority of these anomalies remains …

Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease

GM Blue, EP Kirk, E Giannoulatou… - Journal of the American …, 2014 - jacc.org
Background: Many genes have been implicated in the development of congenital heart
disease (CHD). Next-generation sequencing offers opportunities for genetic testing but is …

The epidemiology and genetics of congenital heart disease

E Goldmuntz - Clinics in perinatology, 2001 - perinatology.theclinics.com
Congenital heart disease (CHD) is the most common major birth defect, but little is known
about its cause. Both environmental and genetic factors have been implicated. The genetic …

Development gone awry: congenital heart disease

PJ Gruber, JA Epstein - Circulation research, 2004 - Am Heart Assoc
Significant advances in the understanding of the molecular and genetic basis of congenital
heart disease have emerged from gene inactivation studies in mice and from human genetic …

[HTML][HTML] Genetic testing in congenital heart disease: A clinical approach

MA Chaix, G Andelfinger, P Khairy - World journal of cardiology, 2016 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common type of birth defect. Traditionally, a
polygenic model defined by the interaction of multiple genes and environmental factors was …

The genetics of cardiac birth defects

J Ransom, D Srivastava - Seminars in cell & developmental biology, 2007 - Elsevier
Congenital heart disease likely results from a complex mixture of environmental and genetic
factors. Recent work has elucidated rare single gene mutations that cause a variety of …

Molecular mechanisms of congenital heart disease

H Jing-bin, L Ying-long, S Pei-wu, L Xiao-dong… - Cardiovascular …, 2010 - Elsevier
BACKGROUND: Congenital heart disease (CHD) is the most common type of birth defect.
Despite the many advances in our understanding of cardiac development and many genes …

Congenital heart disease: emerging themes linking genetics and development

S Yuan, S Zaidi, M Brueckner - Current opinion in genetics & development, 2013 - Elsevier
Although congenital heart disease (CHD) is the most common survivable birth defect, the
etiology of most CHD remains unclear. Several lines of evidence from humans and …

[HTML][HTML] The complex genetic basis of congenital heart defects

E Akhirome, NA Walton, JM Nogee, PY Jay - Circulation Journal, 2017 - jstage.jst.go.jp
Twenty years ago, chromosomal abnormalities were the only identifiable genetic causes of a
small fraction of congenital heart defects (CHD). Today, a de novo or inherited genetic …

Genetic insights into normal and abnormal heart development

M Nemer - Cardiovascular Pathology, 2008 - Elsevier
Congenital heart defects (CHDs) affect 1–2% of newborn children and are the leading cause
of death in infants under 1 year of age. CHDs represent the single largest class of birth …