Genetic Basis for Congenital Heart Disease

Revisited: A Scientific Statement From the American Heart Association

American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell-based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care-related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.

Original languageEnglish (US)
Pages (from-to)e653-e711
JournalCirculation
Volume138
Issue number21
DOIs
StatePublished - Nov 20 2018

Fingerprint

Heart Diseases
Heterotaxy Syndrome
Induced Pluripotent Stem Cells
Zebrafish
Thorax
Pediatrics
Delivery of Health Care
Research

Keywords

  • AHA Scientific Statements
  • genetics
  • heart defects, congenital

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Physiology (medical)

Cite this

American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine (2018). Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation, 138(21), e653-e711. https://doi.org/10.1161/CIR.0000000000000606

Genetic Basis for Congenital Heart Disease : Revisited: A Scientific Statement From the American Heart Association. / American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine.

In: Circulation, Vol. 138, No. 21, 20.11.2018, p. e653-e711.

Research output: Contribution to journalArticle

American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine 2018, 'Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association', Circulation, vol. 138, no. 21, pp. e653-e711. https://doi.org/10.1161/CIR.0000000000000606
American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association. Circulation. 2018 Nov 20;138(21):e653-e711. https://doi.org/10.1161/CIR.0000000000000606
American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine. / Genetic Basis for Congenital Heart Disease : Revisited: A Scientific Statement From the American Heart Association. In: Circulation. 2018 ; Vol. 138, No. 21. pp. e653-e711.
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