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

Angela E Lin1, Craig T Basson, Elizabeth Goldmuntz

  • 1Genetics Unit, Department of Pediatrics, MassGeneral Hospital for Children, Boston, Massachusetts 02114, USA. Lin.angela@mgh.harvard.edu

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|June 27, 2008
PubMed

Insights

Genetic syndromes frequently cause congenital heart defects, requiring specialized care for affected adults. This review covers genetic, cardiac, and management issues for common syndromes, including updated data on 22q11.2 deletion and Down syndrome.

Area of Science:

  • Medical Genetics
  • Pediatric Cardiology
  • Clinical Genetics

Background:

  • Congenital heart defects (CHDs) are prevalent in malformation syndromes and genetic disorders.
  • Syndromic individuals represent a significant portion of patients with specific CHDs like atrioventricular canal and pulmonary stenosis.
  • An aging population with special healthcare needs necessitates awareness of cardiovascular issues in genetic syndromes.

Purpose of the Study:

  • To review genetic, cardiac, medical, and reproductive aspects of common genetic syndromes associated with cardiovascular abnormalities.
  • To provide updated information on the cardiac status of adults with 22q11.2 deletion and Down syndrome.
  • To inform primary care providers, geneticists, and specialists on managing cardiovascular complications in these patients.

Main Methods:

  • Literature review of genetic syndromes and associated cardiovascular abnormalities.
  • Synthesis of current knowledge on clinical outcomes and management guidelines.
  • Inclusion of new data on adult cardiac status in 22q11.2 deletion and Down syndrome.

Main Results:

  • Specific CHDs are disproportionately represented in individuals with genetic syndromes.
  • Adults with genetic syndromes require long-term cardiology follow-up.
  • Updated data highlight the cardiac status in adults with 22q11.2 deletion and Down syndrome.

Conclusions:

  • Healthcare providers must be knowledgeable about cardiovascular risks in genetic syndromes.
  • Comprehensive management strategies are crucial for addressing the spectrum of cardiac issues.
  • Understanding genetic, cardiac, and reproductive factors is essential for optimal patient care.

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