Genetic basis of congenital heart disease.
OBJECTIVE
Although the care of infants and children with congenital heart defects has been revolutionized over the past 50 years, their underlying causes have been obscure. Recent progress, accelerated through the Human Genome Project, has resulted in the rapid identification of disease genes causing congenital heart defects.


RESULTS
In this review, progress in identifying new congenital heart defect genes for specific lesions and in understanding their disease pathogenesis in the past year are detailed. Specifically, genes relevant for atrial and atrioventricular septal defects, patent ductus arteriosus, bicuspid aortic valve, and coarctation of the aorta as well as pulmonary valvar and branch stenosis are reviewed.


CONCLUSIONS
The information in this review provides insights into the state-of-the-art knowledge about the molecular genetic causes of congenital heart defects. It suggests that DNA testing may become standard for many forms of congenital heart defects, improving clinicians' ability to anticipate complications for their patients and predict recurrence risk for families of children with congenital heart defects.
Gelb
Bruce D
BD
Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA. bruce.gelb@mssm.edu
D001017:Aortic Coarctation / Q000235:genetics; D001021:Aortic Valve / Q000002:abnormalities; D002135:Calcium-Binding Proteins; D015815:Cell Adhesion Molecules / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics; D050991:GATA4 Transcription Factor; D006330:Heart Defects, Congenital / Q000235:genetics*; D006345:Heart Septal Defects, Ventricular / Q000235:genetics; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; D009154:Mutation; D010375:Pedigree; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D011506:Proteins / Q000235:genetics; D011666:Pulmonary Valve Stenosis / Q000235:genetics; D000072099:Serrate-Jagged Proteins; D020825:T-Box Domain Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
C465506:CRELD1 protein, human; D002135:Calcium-Binding Proteins; D015815:Cell Adhesion Molecules; D004268:DNA-Binding Proteins; D016326:Extracellular Matrix Proteins; D050991:GATA4 Transcription Factor; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C095552:NKX2-5 protein, human; D011506:Proteins; D000072099:Serrate-Jagged Proteins; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; D014157:Transcription Factors; C516724:PTPN11 protein, human; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases