Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis

Introduction

Pentalogy of Cantrell (PC) is an extremely rare multiple congenital anomaly syndrome, characterized by the presence of five major malformations: midline supraumbilical abdominal wall defect (which results in omphalocele), lower sternal defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations (mostly ventricular septal defect) [1]. Additionally, although not part of the classic PC, some severe cases have been associated with herniation of the heart through the diaphragmatic defect, resulting in ectopia cordis (EC) [2]. Such a diagnosis carries a disastrous prognosis without surgical correction or palliation [3]. Furthermore, miscellaneous intracardiac abnormalities even worsen the survival.
Multiple chest interventions and complex anatomy impede their surgical treatment; therefore, the transcatheter approach may be the only possibility. According to our best knowledge, no percutaneous atrial septal defect (ASD) closure has been reported in a patient with PC.

Case report

Omphalocele with incomplete ectopia cordis were diagnosed during routine ultrasonography of a 13-week pregnant young woman with celiac disease. Chromosome abnormalities were excluded in amniocentesis soon after. Over the next repetitive fetal echocardiography studies partial withdrawal of the heart from the hernia into the thoracoabdominal cavity was noted. During the last examination at the 36th week the heart’s apex (left-sided) was positioned in the hernia’s gates (Figure 1 A). After successful delivery by caesarean section at 39 weeks, the 3250 g and 54 cm male was transferred to the operating theatre (7/9 Apgar, with multiple syndactyly in both feet). The pericardium was separated from the peritoneum, the heart transferred to the thoracic cavity, the diaphragm reconstructed and the omphalocele content – part of the liver and stomach as well as small intestine – inserted into the abdominal cavity. Because of the thoracic cavity defect, the heart was covered only with skin and its beating was easily seen. Control transthoracic echocardiography (TTE) showed dextrocardia with right-sided apex (as a result of the heart’s surgical displacement) and 7 mm ASD. At 11 months the child had a chest wall reconstruction performed using autologous bone and cartilaginous grafts. At the age of 2 years TTE showed hemodynamically significant ASD with right ventricle (RV) enlargement and computed tomography was...


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