Pentalogy of Cantrell with Complete Ectopia Cordis in a Fetus with Asplenia

• DOI: 10.2350/12-03-1169-cr.1
• Publication Date: 2012-08-17T14:06:19Z
• Authors: Kathrin Ludwig; Roberto Salmaso; Erich Cosmi; Loredana Iaria; Alessandro De Luca; Katia Margiotti; Valentina Citton; Renzo Manara; Massimo Rugge
• Keywords: Asplenia; Congenital malformations

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