Class II pentalogy of Cantrell.

BACKGROUND: Pentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intra-cardiac abnormalities. The syndrome has never been reported in Tanzania, although may have been reported from other African countries. Survival rate of the complete form of pentalogy of Cantrell is as low as 20%, but recent studies have reported normal growth achieved by 6 years of age where corrective surgeries were done; showing that surgical repair early in life is essential for survival. CASE PRESENTATION: The African baby residing in Tanzania was referred from a district hospital on the second day of life. She was noted to have a huge omphalocele and ectopia cordis covered by a thin membrane, with bowels visible through the membrane and the cardiac impulse visible just below the epigastrium. Despite the physical anomaly, she appeared to saturate well in room air and had stable vitals. Her chest X-ray revealed the absence of the lower segments of the sternum and echocardiography showed multiple intra-cardiac defects. Based on these findings, the diagnosis of pentalogy of Cantrell was reached. On her fifth day of life, the neonate was noted to have signs of cardiac failure characterized by easy fatigability and restlessness during feeding. Cardiac failure treatment was initiated and she was discharged on parents' request on the second week of life. Due to inadequate facilities to undertake this complex corrective surgery, arrangements were being made to refer her abroad. In the meantime, her growth and development was satisfactory until the age of 9 months, when she ran out of the medications and succumbed to death. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill. CONCLUSIONS: The case reported here highlights that in resource limited settings; poor outcome in infants with complex congenital anomalies is a function of multiple factors. However, we believe that surgery would have averted mortality in this 9-month-old female infant. We hope to be able to manage these cases better in future following the recent establishment of cardiac surgery facilities at Muhimbili National Hospital.

Pentalogy of Cantrell with ectopia cordis totalis, total anomalous pulmonary venous connection, and tetralogy of Fallot: a case report and review of the literature.

Pentalogy of Cantrell is a rare condition with a varied expression and a high mortality. We present a patient with the classic pentad (type 1), but with a previously undescribed constellation of cardiac manifestations including ectopia cordis totalis, total anomalous pulmonary venous return, and tetralogy of Fallot. This case reminds us of the challenges associated with the management of various forms of this condition. We discuss the prenatal diagnosis, genetic basis, postnatal evaluation, and management of this entity.

Ectopia cordis.

We report on a preterm male newborn with complete ectopia cordis associated with Cantrell's syndrome. The neonate had an ectopia cordis involving defects of the lower sternum, supraumbilical abdominal wall, anterior portion of the diaphragm, and diaphragmatic portion of the pericardium associated with complex congenital heart defects. The infant died shortly after birth. We discuss this case and review the literature.

Diagnóstico prenatal de ectopia cordis / Prenatal diagnosis of ectopia cordis

La ectopia cordis (EC) es una rara malformación congénita, definida por un desplazamiento total o parcial del corazón fuera de la cavidad torácica, con incidencia entre 5,5-7,9 casos por millón de recién nacidos vivos. Objetivo: Divulgar caso clínico de relevancia. Métodos: Caso clínico: Primigesta de 22 años con 22 semanas de amenorrea, quien acudió referida de la consulta prenatal por presentar ecograma morfofenotípico que evidencia útero grávido con feto podálico de sexo masculino, con deformidad de bóveda craneana, dilatación ventricular e hidrocefalia; y corazón localizado fuera del tórax con latidos arrítmicos. La evaluación anatomopatológica reveló feto de sexo masculino, peso: 600 gramos y talla: 33 cms, con: hidrocefalia, corazón extratorácico, comunicación interauricular e interventricular, ausencia de pericardio, defecto del esternón, labio y paladar hendido, y espina bifida. Conclusiones: El diagnóstico prenatal ha tenido enormes avances con el uso del ultrasonido; un ejemplo es la EC, la cual puede ser identificada desde el primer trimestre de la gestación(AU)

Ectopia cordis (EC) is a rare congenital malformation, defined by a total or partial displacement of the heart outside the thoracic cavity; its incidence is within 5,5-7,9 cases per million alive newborns. Objectives: To disclose clinical case of relevance. Methods: Case report: primigravida 22 years old and 22 weeks of amenorrhea, who went referring to the prenatal visit by presenting evidence that echogram uterus gravid with male fetus, who present deformity of cranial vault, ventricular dilatation and hydrocephalus; heart located outside the chest with arrhythmic beats. The assessment revealed pathologic male fetus, weight: 600 grams and size: 33 cm, showing: hydrocephalus, heart extra thoracic, with interventricular and interauricular communication, absence of the pericardium, defects of the sternum, lip and cleft palate, and spina bifida Conclusión: Prenatal diagnosis has been enormous progress with the use of ultrasound; one example is the EC, which can be identified from the first trimester of pregnancy

The embryologic origin of ventral body wall defects.

Ventral body wall defects include ectopia cordis, bladder exstrophy, and the abdominal wall malformations gastroschisis and omphalocele. The etiology of ectopia cordis, gastroschisis, and bladder exstrophy is not known, but they may be linked to abnormalities in the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall. These folds form in the fourth week (postfertilization) of development as a combination of the parietal layer of lateral plate mesoderm and overlying ectoderm and must move ventrally to meet in the midline. There are differential rates of cell proliferation in the folds and asymmetries in their movement that may be involved in teratogenic effects of toxic factors. Also, the fusion process between the folds is complex, involving cell-to-cell adhesion, cell migration, and cell reorganization and all of these phenomena may be targets for disruption, leading to malformations. In this regard, closure of the ventral body wall is likened to neural tube closure and involves similar processes. It also encompasses a similar time frame during development, such that most neural tube and ventral body wall defects have their origins during the fourth week of development. Omphalocele is a separate entity whose etiology is known. This defect is attributed to a failure of gut loops to return to the body cavity after their normal physiological herniation into the umbilical cord from the 6th to 10th week of development. Thus, the origin of this defect is completely different from that of the ventral body wall malformations.

Fontan operation through a right lateral thoracotomy to treat Cantrell syndrome with severe ectopia cordis.

A median sternotomy would be very difficult for Cantrell syndrome with severe ectopia cordis. For Cantrell syndrome and tricuspid atresia after left modified Blalock-Taussig shunt with severe ectopia cordis, defect in the middle and inferior portion of the sternum, and the closing of ventriculo-peritoneal shunt, we performed extracardiac total cavopulmonary connection through a right lateral thoracotomy after establishing right modified Blalock-Taussig shunt and performing coil embolization of left modified Blalock-Taussig shunt by cardiologists.