Genetic counseling in the adult with congenital heart disease: What is the role?

Luke Burchill, Steven Greenway, Candice K. Silversides, Seema Mital

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.

Original languageEnglish (US)
Pages (from-to)347-355
Number of pages9
JournalCurrent cardiology reports
Issue number4
StatePublished - Aug 2011
Externally publishedYes


  • Adult congenital heart disease
  • Cardiac malformations
  • Genetic counseling
  • Genetic testing

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine


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