Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Genet Med. 2008 Jul;10(7):469-94. doi: 10.1097/gim.0b013e3181772111.


Cardiovascular abnormalities, especially structural congenital heart defects, commonly occur in malformation syndromes and genetic disorders. Individuals with syndromes comprise a significant proportion of those affected with selected congenital heart defects such as complete atrioventricular canal, interrupted arch type B, supravalvar aortic stenosis, and pulmonary stenosis. As these individuals age, they contribute to the growing population of adults with special health care needs. Although most will require longterm cardiology follow-up, primary care providers, geneticists, and other specialists should be aware of (1) the type and frequency of cardiovascular abnormalities, (2) the range of clinical outcomes, and (3) guidelines for prospective management and treatment of potential complications. This article reviews fundamental genetic, cardiac, medical, and reproductive issues associated with common genetic syndromes that are frequently associated with a cardiovascular abnormality. New data are also provided about the cardiac status of adults with a 22q11.2 deletion and with Down syndrome.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Cardiovascular Abnormalities / genetics*
  • Cardiovascular Abnormalities / pathology
  • Cardiovascular Abnormalities / therapy*
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22 / genetics*
  • Down Syndrome / genetics*
  • Female
  • Genetic Counseling
  • Genetic Diseases, Inborn / genetics
  • Humans
  • Male
  • Pregnancy
  • Reproduction / genetics
  • Syndrome