Pediatric Cardiology

, 32:977 | Cite as

Ellis–van Creveld Syndrome and Congenital Heart Defects: Presentation of an Additional 32 Cases

  • Christine B. HillsEmail author
  • Lazaros Kochilas
  • Lisa A. Schimmenti
  • James H. Moller
Case Report


Ellis–van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis.


Ellis–van Creveld syndrome Congenital heart defects Genotype–phenotype correlation 



Ellis–van Creveld


Congenital heart disease


Pediatric Cardiac Care Consortium


Atrioventricular canal defect


Common atrium


Left superior vena cava



We thank the PCCC and its participating hospitals for the effort and time that has been spent by many contributors to establish and maintain this database. Special thanks to E. Virgil Larson for database research assistance and to Sarah Powell, Program Director of the PCCC.

Conflicts of interest



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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  • Christine B. Hills
    • 1
    • 3
    Email author
  • Lazaros Kochilas
    • 1
  • Lisa A. Schimmenti
    • 2
  • James H. Moller
    • 1
  1. 1.Department of Pediatric CardiologyUniversity of MinnesotaMinneapolisUSA
  2. 2.Department of Pediatric Genetics and MetabolismUniversity of MinnesotaMinneapolisUSA
  3. 3.The Children’s Heart ClinicMinneapolisUSA

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