Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso / Cantrell's pentalogy diagnosed in the first trimester: case report

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.

Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.

Unexpected Findings of Regulatory Factor X6 Gene Mutation and Severe Hepatic Macrovesicular Steatosis in a Neonate with Congenital Left Ventricle Diverticulum: A Case Report.

Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 (RFX6) heterozygous missense mutation in whole-exome sequencing.

Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.

Ectopia cordis (EC) is a rare malformation that occurs as an isolated lesion or as part of the pentalogy of Cantrell which is characterized by midline closure defects. This was first described by Haller et al. in 1706. EC is seen with a frequency of 5.5-7.9 per 1 million births. It has five types that are: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal. Its differentiation from the pentalogy of Cantrell, first described by Cantrell in 1958, must be done well. Thoracic type has the worst prognosis and due to this poor prognosis in the postnatal period, termination may be offered to these patients as an option. In this paper, a case of an isolated thoracic-type complete EC detected in the prenatal ultrasonography of a pregnant woman referred to our clinic at the 18 weeks and 3 days of gestation is presented.

Surgical Management of Total Sternal Cleft in a Pentalogy of Cantrell Neonate.

Sternal cleft is a rare malformation with significant morbidity and mortality. It has been associated with other midline fusion defects, most significantly Cantrell's pentalogy, involving the sternum, pericardium, heart, diaphragm, and abdominal wall. This study reported a successfully managed case of a newborn with a total sternal cleft and Cantrell's pentalogy. A review of literature and pertinent management principles was also conducted.

Pentalogy of Cantrell With a Left Ventricular Diverticulum and Muscular VSD.

Pentalogy of Cantrell (POC) is a rare congenital disorder characterized by defects of the anterior diaphragm, midline supraumbilical abdominal wall, diaphragmatic pericardium, lower sternum, and heart. The low incidence and significant heterogeneity of POC make it difficult for most surgeons to gain consistent experience in treating these congenital heart defects. Here, we describe the treatment of a patient with POC, tetralogy of Fallot, left ventricular diverticulum, and a muscular ventricular septal defect. An innovative approach through a left ventricular diverticulotomy was utilized, which provided excellent exposure for repair of the muscular ventricular septal defect.

Experience in the Treatment of Pentalogy of Cantrell with Artificial Materials in a Single Clinical Center.

OBJECTIVE: To summarize experience in the treatment of pentalogy of Cantrell (POC) in our hospital and explore the effect of artificial materials in repairing sternal defects. MATERIALS AND METHODS: A retrospective analysis was performed on treatment of five children with POC treated by using the Gore-Tex patch and titanium mesh in the Department of Cardio-Thoracic Surgery, Children's Hospital of Chongqing Medical University, from January 2010 to January 2019. RESULTS: The concurrent conditions included double outlet of right ventricle (n = 2), ventricular septal defect (VSD) and atrial septal defect (ASD) (n = 1), VSD and ASD and patent ductus arteriosus (n = 1), and VSD and left ventricular diverticulum (n = 1) in five cases with POC. Color Doppler echocardiography and computed tomography (CT) + three-dimensional (3D) reconstruction of the thorax and abdomen were performed preoperatively. The cardiac malformation was corrected according to color Doppler echocardiography, and a Gore-Tex patch was used to repair the pericardial defect. Titanium mesh was made according to CT 3D reconstruction with a 3D printing mold to repair sternal defects. All patients underwent a one-stage operation, all hearts were eventually repositioned, no deaths occurred after the operation, and follow-up was performed for 6 months to 2 years. The patients recovered well, and the exterior thorax was normal. CONCLUSION: The diagnosis of POC is not difficult. The priority of surgical treatment for POC is to obtain satisfactory corrections of cardiac malformation. The repair of the pericardial defect with the Gore-Tex patch and the sternal defect with the titanium mesh can make the heart return to the mediastinum, reduce the pressure on the heart, reduce the surgical trauma, reduce the difficulty of repairing the sternal defect, and optimally restore the exterior thorax.

Successful balloon valvuloplasty using direct puncture of the heart for pentalogy of Cantrell with complete ectopia cordis, low birth weight, single ventricle and severe pulmonary stenosis.

We present a 31 gestational weeks' premature baby whose fetal echocardiogram showed ectopia cordis, single ventricle and severe pulmonary stenosis. At 31 gestational weeks, an emergency caesarean section was performed, and his birth weight was 1756 g, SpO2 was 80% on 100% O2. Epicardial echocardiogram showed double inlet right ventricle, severe valvular pulmonary stenosis and no ductus arteriosus. The risk of surgery was very high, so we decided to perform balloon valvuloplasty by direct puncture of the heart. We punctured the apex of the ventricle using a 16-gauge needle under echo guidance, advanced the guidewire to the pulmonary artery and performed balloon valvuloplasty. Soon after the procedure, the cyanosis improved dramatically. This is the first report of a transcatheter procedure performed by direct puncture of the heart for ectopia cordis with complex congenital heart disease.

Norwood Operation of a Neonate With Pentalogy of Cantrell.

Surgical correction of Cantrell syndrome is often associated with an extremely high mortality rate due to the possibility of wound infection or the severity of cardiac anomalies. We report a case of Norwood operation and repositioning of the heart successfully performed 1 day after the birth of a neonate with pentalogy of Cantrell. The patient had double-outlet right ventricle, subaortic stenosis, aortic valve stenosis, hypoplastic aortic arch, and coarctation of the aorta. The patient underwent the Glenn operation at the age of 1 year and is now waiting for the Fontan operation.

Anesthesia for surgical repair of the pentalogy of Cantrell: case report / Anestesia em cirurgia para correção de pentalogia de Cantrell: relato de caso

Abstract 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.

Congenital sternal defect repair in an adult cat with incomplete pentalogy of Cantrell.

CASE DESCRIPTION: A 1-year-old spayed female domestic shorthair cat was evaluated for a sternal defect and ventral abdominal wall hernia. CLINICAL FINDINGS: The cat appeared healthy. Palpation revealed a sternal defect, and the heart could be observed beating underneath the skin at the caudoventral aspect of the thorax. A 3-cm-diameter freely movable mass, consistent with a hernia, was also palpated at the cranioventral aspect of the abdomen. Thoracic radiographic and CT images revealed a sternal cleft, cranial midline abdominal wall hernia, and peritoneopericardial diaphragmatic hernia (PPDH). TREATMENT AND OUTCOME: Thoracotomy and celiotomy were performed. The sternal cleft was repaired with a porcine small intestinal submucosa graft, titanium contourable mesh plate, and interrupted 25-gauge cerclage wires. A diaphragmatic herniorrhaphy was used to correct the PPDH. Thoracic radiographs were obtained immediately after surgery to confirm repair of the sternal cleft, abdominal wall hernia, and PPDH and at 1 and 3 months after surgery to assess the surgical implants, which had not migrated and were intact with only mild bending at the cranial and caudal margins of the mesh plate. At both recheck examinations, the cat appeared healthy with no complications reported by the owner. CLINICAL RELEVANCE: A novel surgical technique was used to successfully repair a large sternal cleft in an adult cat with no postoperative complications reported. This technique may be useful for the treatment of sternal clefts in other cats. This was the first report to describe an adult cat with congenital defects consistent with incomplete pentalogy of Cantrell.

[Anesthesia for surgical repair of the pentalogy of Cantrell: case report]. / Anestesia em cirurgia para correção de pentalogia de Cantrell: relato de caso.

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.

LDT classification and therapeutic strategy of congenital body wall defects.

BACKGROUND: Repairing body wall defects is a critical step in the treatment of some congenital deformities, and this procedure may need the help from plastic surgeons. Although there are many articles about congenital deformities, body wall defects of these malformations are rarely studied as independent targets. METHODS: In this article, the authors present an LDT classification for congenital body wall defects according to the position of the defects, the tissue layers involved, and the surgical urgency, each of which is represented by letters L, D, and T, respectively. That is, the defects in different areas (L), full-thickness (D1), or partial (D0A, D0B) defects, defects needing instant repair (T2), semi-elective repair (T1), or elective repair (T0). Based on this classification system, the authors have performed body wall reconstruction on two pairs of thoraco-omphalopagus twins, one pair of ischiopagus tetrapus twins, and an infant and an adult, both of whom were diagnosed with pentalogy of Cantrell associated with ectopia cordis. RESULTS: Except for one pair of thoraco-omphalopagus twins who died after emergency separation, all the other patients survived. Another pair of thoraco-omphalopagus twins suffered from wound dehiscence and partial flap necrosis, respectively, after surgery. An expanded polytetrafluoroethylene mesh in one sister of the ischiopagus twins was removed because of infection. CONCLUSIONS: LDT classification not only can help doctors categorise different congenital body wall defects rapidly and easily, but can also guide the reconstruction of these defects. It may have clinical value to plastic surgeons to some extent.

Pericardio-Amniotic Shunting for Incomplete Pentalogy of Cantrell.

A 27-year-old woman, gravida 2, para 0, presented with an incomplete Pentalogy of Cantrell with an omphalocele, diaphragmatic hernia, and a pericardial defect at 32 weeks' gestation. A large pericardial effusion compressed the lungs and had led to a reduced lung growth with an observed-to-expected total lung volume of 28% as measured by MRI. The effusion disappeared completely after the insertion of a pericardio-amniotic shunt at 33 weeks. After birth, the newborn showed no signs of pulmonary hypoplasia and underwent a surgical correction of the defect. Protracted wound healing and a difficult withdrawal from opioids complicated the neonatal period. The child was discharged on postnatal day 105 in good condition. This case demonstrates that in case of Pentalogy of Cantrell with large pericardial effusion, the perinatal outcome might be improved by pericardio-amniotic shunting.

One-stage surgical treatment for Cantrell syndrome without repairing the left ventricular diverticulum: a case report.

Cantrell syndrome includes the defects of the heart, pericardium, diaphragm, abdominal wall, and sternum. The operative mortality is usually high. We report here a one-stage surgical correction in a case of Cantrell syndrome with left ventricular diverticulum.

Sternal Cleft Associated with Cantrell's Pentalogy in a German Shepherd Dog.

A 5 mo old male German shepherd dog weighing 15.5 kg was presented with an abdominal wall hernia and exercise intolerance. Physical examination showed a grade II/VI systolic heart murmur and an area of cutaneous atrophy overlying a midline supraumbilical wall defect. Thoracic radiography, computed tomography, and ultrasound examination revealed a congenital caudal sternal cleft, a supraumbilical diastasis rectus, and a patent ductus arteriosus. Exploratory surgery confirmed defects of the pars sternalis of the diaphragm and caudoventral pericardium and a persistent left cranial vena cava. Those findings were compatible with Cantrell's pentalogy. Surgical treatment included ligation of the patent ductus arteriosus through the sternal cleft, diaphragmatic reconstruction with paracostal extension of the diaphragmatic defect, pericardial and linea alba appositional reconstruction, and primary approximation of the sternal halves. Growth and exercise activity were normal 10 mo after surgery. The discovery of a midline cranial abdominal wall, pericardial, diaphragmatic, or sternal defect should prompt a thorough examination to rule out any possible associated syndrome. Cantrell's pentalogy presents various degrees of expression and is rare in dogs. Management involves early surgical repair of congenital anomalies to protect the visceral structures. The prognosis in dogs with mild forms of the syndrome is encouraging.