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PMID: 17519398 Published · ppublish English Journal Article Review

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

Circulation ·Vol. 115 ·No. 23 ·2007-06-12 ·Pages 3015-38

Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL, American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young

Abstract

The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.

MeSH Terms
Chromosome Aberrations Cytogenetic Analysis/methods DNA Mutational Analysis Heart Defects, Congenital/diagnosis,genetics Humans Mutation
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Pierpont Mary Ella
Children's Hospital of Minnesota and University of Minnesota, USA.
Basson Craig T
Benson D Woodrow
Gelb Bruce D
Giglia Therese M
Goldmuntz Elizabeth
McGee Glenn
Sable Craig A
Srivastava Deepak
Webb Catherine L
American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
Article Info
Journal
Circulation
Abbr.
Circulation
ISSN
1524-4539
Published
2007-06-12
Epub
2007-00-22
Pages
3015-38
Language
English
Region
United States
NLM ID
0147763
Subset
IM
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