Genetic origins of pediatric heart disease.
Pediatric heart disease comprises many forms of cardiovascular disease in the young including cardiovascular malformations (CVM), cardiomyopathies, vasculopathies, e.g., Marfan syndrome, and cardiac arrhythmias. CVM are an important component of pediatric heart disease and constitute a major portion of clinically significant birth defects. In the past decade, the complementary nature of genetic, developmental, and biochemical approaches have contributed to extraordinary advances in understanding the origins of pediatric heart disease. Results of the studies of the cardiac transcription factor, NKX2.5, illustrate these accomplishments and at the same time provide a forecast of the nature of future genetic studies to better understand the origins of pediatric heart disease.
Benson
D Woodrow
DW
Department of Pediatrics, Cincinnati Children's Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA. woody.benson@cchmc.org
D000818:Animals; D004195:Disease Models, Animal; D018507:Gene Expression Regulation, Developmental; D006327:Heart Block / Q000196:embryology / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics*; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D008382:Marfan Syndrome / Q000196:embryology / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D012307:Risk Factors; D020825:T-Box Domain Proteins / Q000235:genetics / Q000378:metabolism; D014157:Transcription Factors / Q000235:genetics
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D020825:T-Box Domain Proteins; D014157:Transcription Factors