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Over 10 years, 8 infants required surgery for central diaphragmatic herniation. Contrast peritoneography and technetium-99m-sulfur colloid radionuclide scanning were the most definitive diagnostic aids. Associated anomalies included variations of the pentalogy of Cantrell. A midline gastroduodenal loop was found in two infants. Six infants are alive and well 6 months to 3 years postoperatively. An abdominal approach is preferred if there is an intestinal hernia, associated gastrointestinal anomalies, or if a bilateral defect is present.

A 34-week stillborn infant had omphalocele, agenesis of the sternum and anterior rib cage, membranous diaphragms with eventration of the viscera, ectopia cordis with absence of the pericardium, and congenital heart defect. These findings are consistent with a diagnosis of Cantrell pentalogy. The presence of bilateral clubfeet, spina bifida, hydrocephalus, abnormal ears, and horseshoe kidneys suggested a chromosome abnormality. Chromosome analysis showed trisomy 18. Individuals with manifestations of Cantrell pentalogy deserve cytogenetic evaluation.

We report a case of a female neonate with an incomplete (Class II) pentalogy of Cantrell (PC) presenting: omphalocoele, thoracoabdominal type of partial ectopia cordis with ventricular septal defect and valvular pulmonary stenosis. The patient underwent a successful complete operation. We discuss associated anomalies that might occur with PC and the general overall prognosis for patients with PC. This report describes a very rare case of a patient with PC and coexisting partial ectopia cordis who survived.

We report a case of 20 weeks' gestation which was diagnosed as pentalogy of Cantrell (PC). The sonographic examination revealed part of the typical fetal anomalies, including ectopia cordis and hepato-omphalocele. Abnormal venous flow including reversed A-wave of ductus venosus (DV) and pulsatile umbilical vein and portal vein were identified by Doppler ultrasound. Fetal magnetic resonance imaging confirmed the diagnosis with additional findings of pleural effusion and increased nuchal thickness. The pregnancy was terminated by elective vaginal induction. The chromosomal karyotype of cord blood was 46, XY.

Ten cases of prenatal diagnosis of Pentalogy of Cantrell are reported. A uniformly fatal outcome was found confirmed by a review of similar cases prenatally diagnosed by other authors. This is at variance with the data derived from the pediatric literature. Implications in obstetrical management and parental counseling are discussed.

The ideal treatment for pentalogy of Cantrell is neo-sternum reconstruction by using autologous tissues. Although treatment timing varies depending on the degree of deformity and patient’s condition, the principle is performing the procedure at the earliest, to prevent blunt or piercing trauma to the heart. However, the challenge is performing the procedure on a neonate, because feasibility of the procedure is affected by the size of the defect, and limitations in utilizable autologous tissues. We used a small biocompatible patch (Permacol®) and lower costal cartilage to perform curative neo-sternum reconstruction, which is a simple and safe treatment method.

Pentalogy of Cantrell (PC) is a rare multi-organ congenital anomaly that impedes ventral body wall closure and results in diaphragmatic hernia, intra- and pericardial defects. The underlying cellular and molecular changes that lead to these severe developmental defects have remained unknown largely due to the lack of representative animal models. Here we provide in depth characterization of a mouse model with conditional ablation of TGFβRII in Transgelin (Tagln) expressing cells. We show that Tagln is transiently expressed in a variety of cells that participate in the embryonic development and patterning of ventral structures. Genetic ablation of TGFβRII in these cells leads to ventral midline closure defect, diaphragmatic hernia, dilated cardiac outflow tract and aberrant cardiac septation, providing a reliable model to study the morphological changes leading to PC. We show that myogenisis in the diaphragm is independent of TGFβ and the diaphragmatic hernia arises from fibroblast-specific migration defect. In the dorsal body wall Tagln expression is initiated after the closure process, revealing a remarkable difference between ventral and dorsal body walls development. Our study demonstrates the use of micro-CT scanning to obtain a 3-dimensional high-resolution overview of embryonic anomalies and provides the first mechanistic insight into the development of PC.

Pentalogy of Cantrell is a congenital anomaly associated with defects in the abdominal wall, sternum, diaphragm, and diaphragmatic pericardium formation, in addition to the development of cardiac abnormalities. It is a rare disease with an estimated incidence of one case for every 65,000 births, being more common in males (60% of cases). It has a reserved prognosis with mortality around 63%, and a maximum of 9 months survival after surgery. There are few case reports addressing the pentalogy of Cantrell, which is justified by the rarity of this pathology. In this report our objective was to describe a surgical case of a female patient and make some anesthetic considerations about this rare congenital malformation. Resumo: A pentalogia de Cantrell é uma anomalia congênita associada a defeitos na formação da parede abdominal, do esterno, diafragma e pericárdio diafragmático, além do desenvolvimento de anomalias cardíacas. É uma doença rara, com incidência estimada em um caso para cada 65.000 nascimentos, mais comum no sexo masculino (60% dos casos). Apresenta prognóstico reservado com mortalidade em torno de 63% e sobrevida após procedimento cirúrgico de no máximo nove meses. São escassos os relatos de casos referentes à pentalogia de Cantrell, o que se justifica pela raridade dessa patologia. Com este relato, os autores objetivam descrever um caso cirúrgico, em paciente do sexo feminino, e tecer algumas considerações anestésicas sobre essa malformação congênita rara. Keywords: Pentalogy of Cantrell, Congenital malformation, Rare disease, Palavras-chave: Pentalogia de Cantrell, Malformação congênita, Doença rara