Pentalogy of Cantrell: a case report

Pentalogy of Cantrell (PC) is defined by omphalocele, anterior diaphragmatic hernia, sternal cleft, ectopia cordis and intracardiac abnormalities. Diagnosis is simple, the neonatal treatment challenging and the prognosis poor.

We describe a case of PC during pregnancy, its management at birth and the postnatal outcome.

The first trimester ultrasound of a 33 years old 3 rd-para showed an increased nuchal translucency and the hallmarks of PC. Amniocentesis at 15 gestational weeks (GW) showed normal karyotype and microarray. After counseling, the parents decided to continue the pregnancy. Fetal echocardiography showed normal left-sided heart structures with a large portion of the left ventricle (LV) displaced into the omphalocoele; a ventricular septal defect was suspected and the right ventricle (RV) poorly visualized, RV hypoplasia was postulated. C-Section was performed at 37 GW. Intubation was required because of bradycardia and hypoxia. Echocardiography showed tricuspidal atresia with hypoplastic RV, ventricular septal defect, ectopy of the LV with reduced contractility and mitral regurgitation. The girl presented also bilateral choanal atresia, asplenia, and dysmorphic phenotype. Lung hypoplasia was suspected at chest-xray. In spite of intensive treatments, including prostaglandin, NO Ventilation and high dose catecholamine, adequate oxygenation levels could not be achieved and low cardiac output persisted. The options of surgical treatment with unclear outcome and long-term morbidities or palliative care were discussed with the parents who decided for palliative care. The newborn died short after extubation.

An interdisciplinary expert team should be involved if diagnosis of PC is done, to ensure prenatal counseling and to plan optimal perinatal management.