PMID: 8946132Oct 1, 1996Paper

New understandings in the genetics of congenital heart disease

Current Opinion in Pediatrics
D W BensonC A MacRae

Abstract

In spite of the amazing success during the past half century in diagnosis and treatment of congenital heart disease, very little is known of its cause. However, a genetic cause has been clearly established for many forms of cardiovascular disease, and new understandings in the molecular genetics of congenital heart disease provide further insight. Progress has been quite impressive for some cardiovascular abnormalities, whereas in other areas the findings are more preliminary. For example, the molecular genetic cause of supravalvular aortic stenosis and the heart disease associated with Marfan syndrome has been clearly established. Impressive progress has been made in conotruncal defects, Holt-Oram syndrome, Alagille syndrome, and total anomalous pulmonary venous connection. In other areas, such as patent ductus arteriosus and atrioventricular septal defect, the findings are more preliminary. Taken as a whole, the prospect of understanding the genetic basis of congenital heart disease has never been better. Understanding the cause of congenital heart disease will provide new insights into both normal cardiac development and the pathophysiologic basis of congenital heart defects.

Citations

Oct 3, 2008·European Journal of Human Genetics : EJHG·Paweł StańczakAleksander L Sieroń
Jan 7, 2005·Development·Daniel D BrownFrank L Conlon
May 27, 2006·Development·Sarah C GoetzFrank L Conlon
Apr 12, 2016·Molecular Genetics & Genomic Medicine·Kameel KassabGeorges Nemer
Sep 10, 2004·Clinical Genetics·D IsphordingH-G Simon
May 4, 2011·Birth Defects Research. Part A, Clinical and Molecular Teratology·Erin KaltenbrunFrank L Conlon
May 29, 2001·American Journal of Medical Genetics·C J Vaughan, C T Basson
Dec 4, 2004·International Anesthesiology Clinics·Dharam Mann, Vipin Mehta
Mar 10, 2010·Circulation·D Woodrow Benson, Lisa J Martin
Jun 28, 2005·European Heart Journal·Salvatore CaputoRaffaele Calabrò

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