RESUMO
Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.
Assuntos
Ectopia Cordis/patologia , Pentalogia de Cantrell/patologia , Síndrome da Trissomía do Cromossomo 18/patologia , Adulto , Feminino , Idade Gestacional , Hérnia Umbilical/patologia , Humanos , Pentalogia de Cantrell/diagnóstico , Gravidez , Primeiro Trimestre da Gravidez/metabolismo , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Ultrassonografia Pré-Natal/métodosRESUMO
Ectopia cordis is a rare congenital malformation, which is commonly associated with other intracardiac defects. At two-day-old full-term baby girl was admitted to Santa Casade Misericórdia Hospital Montes Claros, NG, Brazil, with thoracic ectopia cordis. A transthoracic echocardiographic study did not identify any associated congenital heart diseases. The infant underwent surgical treatment using a rib graft to create a neo-sternum. She was discharged after presenting a good outcome on the 20th postoperative day.