Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz, Ian D. Krantz

Research output: Contribution to journalArticlepeer-review

33 Scopus citations


Congenital heart disease (CHD) has been reported to occur in 14-70% of individuals with Cornelia de Lange syndrome (CdLS, OMIM 122470) and accounts for significant morbidity and mortality when present. Charts from a cohort of 479 patients with CdLS were reviewed for cardiac evaluations, gene testing and information to determine phenotypic severity. Two hundred fifty-nine individuals had either documented structural defects or minor cardiac findings. The presence of CHD was then quantified as a function of mutation status and severity of CdLS: mild, moderate, or severe. Different types of CHD were also evaluated by mutation status to assess for any genotype-phenotype correlation. NIPBL, SMC1A, and SMC3 mutation-positive patients were equally likely to have CHD, although the number of SMC1A and SMC3 mutation-positive patients were small in comparison. Structural CHDs were more likely to be present in individuals with moderate and severe CdLS than in the mild phenotype. This study evaluates the trends of CHD seen in the CdLS population and correlates these findings with genotype.

Original languageEnglish (US)
Pages (from-to)2499-2505
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number10
StatePublished - Oct 2012
Externally publishedYes


  • Cohesin
  • Congenital heart disease (CHD)
  • Cornelia de Lange syndrome (CdLS)
  • Mutation
  • Phenotype
  • SMC1A
  • SMC3

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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