The genetic basis of paediatric heart disease

Mark C. Johnson, R. Mark Payne, James W. Grant, Arnold W. Strauss

Research output: Contribution to journalReview articlepeer-review

13 Scopus citations


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, Marian'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.

Original languageEnglish
Pages (from-to)289-300
Number of pages12
JournalAnnals of Medicine
Issue number3
StatePublished - 1995


  • CATCH-22
  • Congenital heart disease
  • Genetic
  • Hypertrophic cardiomyopathy
  • Williams syndrome


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