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

Angela E. Lin, Craig T. Basson, Elizabeth Goldmuntz, Pilar L. Magoulas, Deborah A. McDermott, Donna M. McDonald-McGinn, Elspeth McPherson, Colleen A. Morris, Jacqueline Noonan, Catherine Nowak, Mary Ella Pierpont, Reed E. Pyeritz, Alan F. Rope, Elaine Zackai, Barbara R. Pober

Research output: Contribution to journalReview articlepeer-review

70 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)469-494
Number of pages26
JournalGenetics in Medicine
Issue number7
StatePublished - Jul 2008


  • Congenital heart defect
  • Deletion 22q11
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • Turner syndrome
  • Williams-Beuren syndrome


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