The genetics of congenital heart disease: a point in the revolution. Cardiol Clin 2002 Aug;20(3):385-94, vi
Date
10/10/2002Pubmed ID
12371007DOI
10.1016/s0733-8651(02)00009-7Scopus ID
2-s2.0-0036696087 (requires institutional sign-in at Scopus site) 24 CitationsAbstract
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.
Author List
Benson DWMESH terms used to index this publication - Major topics in bold
AnimalsGene Expression
Genetic Counseling
Genetic Heterogeneity
Genomics
Heart Defects, Congenital
Homeobox Protein Nkx-2.5
Homeodomain Proteins
Humans
Models, Animal
Penetrance
Tetralogy of Fallot
Transcription Factors
Xenopus Proteins
