PMID: 7546617Jun 1, 1995Paper

The genetic basis of paediatric heart disease

Annals of Medicine
M C JohnsonA W Strauss

Abstract

This review focuses on recent advances in understanding the pathogenesis of paediatric heart disease and on the known single gene defects responsible for these diseases. Many paediatric cardiovascular diseases are heritable, have clinical manifestations in adult ages, are frequent in occurrence, and can have significant social and economic impact. Specific gene defects have been identified for hypertrophic and dilated cardiomyopathies, mitochondrial cardiomyopathies, Marfan's syndrome, Williams syndrome, familial supravalvar aortic stenosis, CATCH-22 syndrome and atrioventricular canal. Limited phenotypic response of the developing heart accounts for similar cardiovascular defects from differing gene defects. Although environmental factors affect expression of many of these genes, it is clear that single gene defects can be identified which cause paediatric cardiovascular disease. Interactions among cardiologists, cardiovascular surgeons, geneticists and basic scientists are vitally important in understanding the genetic basis of paediatric heart disease, its diagnosis and its therapy.

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Citations

Dec 10, 1999·Pediatric Pulmonology·R RishaniS Mroueh
Aug 5, 2000·Primary Care·G D Harris
Jan 2, 2014·Global Advances in Health and Medicine : Improving Healthcare Outcomes Worldwide·Jean-Claude Lapraz, Kamyar M Hedayat
Jul 1, 1997·Pediatric Cardiology·R Abdulla
Jul 1, 1997·Pediatric Cardiology·R Abdulla
Aug 4, 2001·Seminars in Thoracic and Cardiovascular Surgery. Pediatric Cardiac Surgery Annual·Arnold W. Strauss
May 22, 2002·Endocrinology·Jonathan A EpsteinMichael S Parmacek
Sep 26, 2002·Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society·Margaret L Kirby

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