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

Kathrin Ludwig, Roberto Salmaso, Erich Cosmi, Loredana Iaria, Alessandro De Luca, Katia Margiotti, Valentina Citton, Renzo Manara, Massimo Rugge

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)495-498
Number of pages4
JournalPediatric and Developmental Pathology
Volume15
Issue number6
DOIs
Publication statusPublished - Nov 2012

Keywords

  • Asplenia
  • Cantrell's pentalogy
  • Ectopia cordis
  • Heterotaxia

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pathology and Forensic Medicine

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