Pentalogy of cantrell with complete ectopia cordis in a fetus with asplenia

Pediatr Dev Pathol. 2012 Nov-Dec;15(6):495-8. doi: 10.2350/12-03-1169-CR.1. Epub 2012 Aug 17.


Cantrell's pentalogy (CP) is a rare, mainly sporadic spectrum of congenital midline thoracoabdominal defects that includes sternal anomalies, ventral diaphragmatic hernia, partial absence of the pericardium, supraumbilical abdominal wall defects, and congenital heart malformations. The approximate incidence is 1 in 100 000, with a 2∶1 male predominance. A 25-year-old pregnant woman was referred to the Prenatal Diagnosis Unit of the University Hospital of Padua for multiple congenital malformations at 21 weeks of gestation. A level 2 ultrasound scan was performed and confirmed the presence of multiple anomalies compatible with the diagnosis of CP associated with complete ectopia cordis. Fetal autopsy furthermore revealed asplenia, which usually presents as part of the heterotaxia spectrum. To our knowledge, an association of CP and complete ectopia cordis with asplenia has never been reported so far.

Publication types

  • Case Reports

MeSH terms

  • Abortion, Eugenic
  • Adult
  • DNA Mutational Analysis
  • Ectopia Cordis / diagnostic imaging
  • Ectopia Cordis / etiology*
  • Ectopia Cordis / pathology
  • Fatal Outcome
  • Female
  • Gestational Age
  • Humans
  • Pentalogy of Cantrell / diagnostic imaging
  • Pentalogy of Cantrell / etiology*
  • Pentalogy of Cantrell / pathology
  • Pregnancy
  • Spleen / abnormalities*
  • Ultrasonography, Prenatal