The geneticist's role in adult congenital heart disease.
The Human Genome Project promises to revolutionize our understanding and approach to human diseases. It promises to identify the genes and pathways involved in normal cardiac development and to determine the impact of mutations in these genes in the pathogenesis of syndromic and nonsyndromic congenital heart defects. Some of these advances in genetic knowledge are being translated into clinical care, raising the question of what role this knowledge should have in the adult congenital heart disease (ACHD) clinic. The authors summarize the clinical and molecular advances relevant to the care and genetic counseling of ACHD patients and explore the role of genetic care providers in an ACHD clinic.
Bernier
Francois P
FP
Department of Medical Genetics, University of Calgary, Alberta Children's Hospital, 1820 Richmond Road, SW Calgary, AB T2T5C7, Canada. francois.bernier@calgaryhealthregion.ca
Spaetgens
Renee
R
D000328:Adult; D025063:Chromosome Disorders / Q000235:genetics; D005260:Female; D005817:Genetic Counseling; D006330:Heart Defects, Congenital / Q000209:etiology / Q000235:genetics*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D055502:Secondary Prevention; D013577:Syndrome