The genetics of congenital heart disease: a point in the revolution.
Extraordinary diagnostic precision and definitive therapies characterize the current management of congenital heart disease, but the state of the art is not perfect; and in spite of tremendous progress in diagnosis and treatment, our understanding of cause is rudimentary. During the past decade, advances in molecular genetics have defined disease gene loci and lead to identification of genes whose mutations cause congenital heart disease. Identification of additional genes and mutations will lead to improved understanding of pathophysiology of cardiovascular disease in the young. Better understanding of pathophysiology and identification of individuals at risk will provide an opportunity to develop preventive strategies. Taken as a whole, the prospect of understanding the genetic basis of congenital heart disease and translating it into improved diagnostic and therapeutic strategies has never been better.
Benson
D Woodrow
DW
Division of Cardiology, Children's Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45242, USA. woody.benson@chmcc.org
D000818:Animals; D015870:Gene Expression / Q000235:genetics; D005817:Genetic Counseling; D018740:Genetic Heterogeneity; D023281:Genomics / Q000639:trends; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000503:physiopathology / Q000517:prevention & control; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D023421:Models, Animal; D019683:Penetrance; D013771:Tetralogy of Fallot / Q000235:genetics; D014157:Transcription Factors; D029867:Xenopus Proteins
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D014157:Transcription Factors; D029867:Xenopus Proteins