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.

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.

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.

Twin pregnancy in which both fetuses have Cantrell's pentalogy: A case report and literature review.

Cantrell's pentalogy is a congenital multiple malformation consisting of midline supraumbilical thoraco-abdominal wall defects, anterior and pericardial diaphragm defects, lower sternum defects, ectopia cordis and various intracardiac anomalies. Complete pentalogy is very rare. Some additional anomalies may accompany pentalogy and there are cases in the literature where chromosomal anomalies and pentalogy are seen. Cases of Cantrell's pentalogy in twin pregnancies are rare. Twin pregnancies with Cantrell's pentalogy in both fetuses are one of the rarest cases in the literature. In this study, we presented a twin pregnancy case with Cantrell's pentalogy in both fetuses and we reviewed twin pregnancy cases in which Cantrell's pentalogy was seen in the literature. In our case, anomalies were found in both fetuses in the evaluation performed on a 32-year-old, gravida 2, para 1 woman with 10 weeks + 5 days monochorionic-monoamniotic twin pregnancy. The first fetus had ectopia cordis, cystic hygroma and increased nuchal thickness (4.6 mm), and the anterior abdominal wall was in contact with the amniotic band. The second fetus had ectopia cordis omphalocele, cystic hygroma, holoprosencephaly and a single lower extremity deficiency. Both fetuses were pre-diagnosed with Cantrell's pentalogy and the parents were informed about the adverse course of the fetuses. After the completion of the legal procedures, with the approval and decision of the parents, termination was made in the 11th week of pregnancy. External images of the fetuses confirmed the diagnosis. The family denied the autopsy procedure. When we review the literature, twin pregnancies complicated by Cantrell's pentalogy are divided into 3 groups: Group1- cases where one of the twins has completely normal phenotype and the other twin has Cantrell's pentalogy; Group2- cases where one of the twins has Cantrell's pentalogy and the other twin does not have the Cantrell's pentalogy but has several anomalies; Group3- cases where both fetuses have Cantrell's pentalogy. In conclusion, early diagnosis of twin pregnancy cases complicated by Cantrell's pentalogy and determination of all anomalies in both fetuses are very important in terms of obstetric management.

Pentalogía de Cantrell. Reporte de un caso en el Hospital San Vicente de Paúl de Ibarra, Ecuador / Pentalogy of Cantrell. Report of a case in the San Vicente de Paul Hospital in Ibarra - Ecuador

La pentalogía de Cantrell, o también llamada hernia diafragmática peritoneo-pericárdica, es un síndrome raro que engloba cinco defectos básicos de corazón, esternón, pared abdominal supraumbilical, diafragma y pericardio, cuya incidencia es de aproximadamente uno por cada 200.000 nacimientos1 con un predominio masculino con una relación de 1,35:12. Los doctores Cantrell, Haller y Ravitch describieron esta patología en 19581, recientemente se propuso una hexalogía adicionando al diagnóstico la presencia de una arteria umbilical única3. Se describe el caso de una paciente de 20 años, cursando un embarazo de 26,3 semanas cuyo feto desarrolló una pentalogía de Cantrell asociada a transposición de los grandes vasos. OBJETIVO: El presente artículo pretende describir un caso de pentalogía de Cantrell con una revisión de su fisiopatología, datos diagnósticos, clasificación y manejo. MÉTODOS/ESTRATEGIA DE BÚSQUEDA: Revisión de la historia clínica de la paciente dentro del Servicio de Ginecología y Obstetricia del Hospital San Vicente de Paúl en Ibarra, Ecuador. RESULTADOS: Ecografía obstétrica reporta feto de 26 semanas de gestación, evidenciándose defecto de pared torácica de 2,84 cm al corte axial, que provoca ectopia cardíaca completa, defecto de pared abdominal superior de 4,3 cm al corte transversal que produce protrusión de parénquima hepático, a la ecocardiografía se evidencia transposición de los grandes vasos, se cataloga como pentalogía de Cantrell tipo I. Se decide terminación de embarazo por incompatibilidad con la vida, obteniéndose recién nacido masculino, en el que se comprobó los defectos torácico y abdominal, fallece a los pocos minutos. IMPLICACIONES PARA LA PRÁCTICA: Resaltar la importancia de la ecografía estructural o morfológica, entre las 18 a 24 semanas, para detectar malformaciones congénitas mayores, obtener un diagnóstico certero y realizar un manejo oportuno. IMPLICACIONES PARA LA INVESTIGACIÓN: Se requieren más estudios para determinar etiología y manejo para estos pacientes, ya que se reportan casos de sobrevivencia de los mismos

Cantrell's Pentalogy, and also called peritoneum-pericardial diaphragmatic hernia, is a rare syndrome that includes five basic defects of the heart, sternum, supra-umbilical abdominal wall, diaphragm, and pericardium. Its incidence is approximately 1 for every 200,000 births, with a male predominance with a ratio of 1.35: 1. Doctors Cantrell, Haller and Ravitch described this pathology in 1958 and recently a hexalogy was proposed, adding the presence of a single umbilical artery to the diagnosis. The case is presented on a 20-year-old woman in a 26.3 weeks pregnancy in whom the foetus developed Cantrell's Pentalogy associated with transposition of the great vessels. PURPOSE: This article aims to describe a case of Cantrell's Pentalogy with a review of its physiopathology, diagnostic data, classification, and management. METHODS/SEARCH STRATEGY: Review of the patient's clinical history in the gynaecology and obstetrics service of the San Vicente de Paul Hospital in Ibarra - Ecuador. RESULTS: Obstetric ultrasound showed a foetus of 26 weeks of gestation, with a chest wall defect of 2.84 cm at the axial section that caused complete cardiac ectopy, as well as an upper abdominal wall defect of 4.3cm at the cross section that produced a protrusion of the liver parenchyma. In the cardiac ultrasound transposition of the great vessels could be seen, and was classified as Cantrell's Pentalogy type I. Termination of pregnancy was decided due to incompatibility with life, obtaining a male newborn in whom the thoracic and abdominal defects were verified, and died within a few minutes. IMPLICATIONS FOR PRACTICE: Highlights the importance of structural or morphological ultrasound, between 18 to 24 weeks, to detect major congenital malformations, obtain an accurate diagnosis and timely management. IMPLICATIONS FOR RESEARCH: More studies are required to determine the aetiology and management of these patients, because cases of survival are reported

Cantrell syndrome in the first trimester of pregnancy: imagistic findings and literature review.

Pentalogy of Cantrell (POC) is a rare condition characterized by complete or partial expression of 5 types of congenital birth defects originating in (1) the lower sternum, (2) the anterior diaphragm, (3) the diaphragmatic pericardium, (4) the midline/ventral supraumbilical abdominal wall region, and (5) the heart. POC can be diagnosed antenatally by means of ultrasonography (US), the task being difficult if defects are minor. Advances in the field of US and the introduction of the first morphology trimester as state-of-the-art pregnancy monitoring, facilitate the early diagnosis of this condition. We performed a systematic review on 67 reported cases of POC diagnosed in the first trimester of pregnancy (published from January 1980 to July 2019). The aim of our systematic review was twofold: to assess the main US findings in the first trimester of pregnancy and to increase awareness of early diagnostic possibilities. Our study showed that POC can be diagnosed in the first trimesterof pregnancy based on key US findings such as the association between omphalocele and ectopia cordis. When these two anomalies are present, increased nuchal translucency can also be considered a marker of POC in the first trimester.

Ectopia cordis associated with pentalogy of cantrell-a case report / Ectopia cordis associada à pentalogia de cantrell-relato de caso

Abstract Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.

Resumo A pentalogia de Cantrell (PC) é uma rara anomalia congênita caracterizada por alterações nas estruturas medianas mesodérmicas e doenças cardíacas congênitas, cursando muitas vezes com um mau prognóstico. Em 1958, Cantrell et al2 definiram o espectro completo da síndrome com as seguintes anomalias: defeitos do diafragma anterior, da parte inferior do esterno, da região supraumbilical e parede abdominal, do pericárdio diafragmático, e várias anormalidades congênitas intracardíacas. O presente relato relaciona-se a um caso de ectopia cordis associado à PC e à importância da participação de uma equipe multidisciplinar no acompanhamento da doença.

Ectopia Cordis Associated with Pentalogy of Cantrell-A Case Report.

Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.

A pentalogia de Cantrell (PC) é uma rara anomalia congênita caracterizada por alterações nas estruturas medianas mesodérmicas e doenças cardíacas congênitas, cursando muitas vezes com um mau prognóstico. Em 1958, Cantrell et al2 definiram o espectro completo da síndrome com as seguintes anomalias: defeitos do diafragma anterior, da parte inferior do esterno, da região supraumbilical e parede abdominal, do pericárdio diafragmático, e várias anormalidades congênitas intracardíacas. O presente relato relaciona-se a um caso de ectopia cordis associado à PC e à importância da participação de uma equipe multidisciplinar no acompanhamento da doença.

Pentalogy of Cantrell associated with unilateral anophthalmia: Case report and literature review.

RATIONALE: Pentalogy of Cantrell, a very rare congenital condition, has an estimated incidence of 5.5 per 1 million live births. It includes five defects: a midline supraumbilical wall defect, a diaphragmatic defect, a cleft distal sternum, a defect in the diaphragmatic pericardium, and an intracardiac defect. Very few cases of this condition have been reported in the literature, most of them diagnosed in the second or third trimester of pregnancy. PATIENT CONCERNS: We present a case of pentalogy of Cantrell associated with cranioschisis and unilateral anophthalmia diagnosed at 14 weeks of amenorrhea. DIAGNOSES: The combination of abdominal and vaginal sonography established the diagnosis of 14 weeks of amenorrhea with a plurimalformative syndrome including: ectopia cordis, large suprambilical anterior abdominal wall defect, omphalocele, anomaly of the shape of the skull, and anomalies of the brain. INTERVENTIONS: After counseling the parents, the pregnancy was interrupted, as requested by the family. OUTCOMES: Pathological examination of the fetus after the therapeutic abortion confirmed the diagnosis. LESSONS: Because of the poor prognosis of Cantrell's pentalogy, early antenatal sonographic detection is important and allows for elective abortion before viability.

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.

Two cases of Pentalogy of Cantrell diagnosed antenatally at Korle Bu Teaching Hospital, Accra.

Pentalogy of Cantrell is a rare congenital malformation syndrome that may be associated with other congenital anomalies. The syndrome is said to affect males and females in equal numbers and the prognosis is generally poor. We report two cases of Cantrell's Pentalogy diagnosed antenatally at the Korle Bu teaching Hospital. The 2 cases described in this report demonstrate the complete and incomplete variant of the syndrome. The cases were referred as an omphalocoele and a detailed anomaly scan confirmed the diagnosis of Pentalogy of Cantrell. Both cases were females and neither survived beyond 24 hours. Although this condition is associated with a poor prognosis, there have been some reported cases of survival in the literature. Thus, accurate prenatal diagnosis and a multidisciplinary approach to the management may offer improved outcomes.

Pentalogy of Cantrell: A View From Fetus to Operation With Multimodality Imaging.

Pentalogy of Cantrell and its surgical management have been previously described in the literature. To our knowledge, our case report is the first that is able to demonstrate the full use of multimodality imaging to describe it. Viewing this rare defect chronologically from fetal echocardiography, postnatal ultrasonography, and magnetic resonance imaging, as well as intraoperatively aided in the management of this patient.

Pentalogía de Cantrell: un caso en embarazo gemelar / Cantrell`s Pentalogy: A case in twin pregnancy

La pentalogía de Cantrell es una enfermedad muy poco frecuente sobre todo en embarazos múltiples. Está caracterizado por presentar malformaciones integradas por defectos de cinco anomalías: tercio inferior del esternón, defecto epigástrico de la línea media abdominal, alteración del segmento anterior del diafragma, defectos pericárdicos y malformaciones cardiacas. Se reporta un caso en una paciente primigesta de 22 años de edad y embarazo gemelar que acude para su control ecográfico a las 27,3 semanas de gestación, en donde se encuentran los siguientes hallazgos ecográficos: anencefalia, anormalidad facial y corazón fuera de la cavidad torácica. Se da el nacimiento de los gemelos por vía cesárea a las 35 semanas: el primero de aspecto normal y el segundo con Pentalogía de Cantrell y otras malformaciones asociadas.

Pentalogy of Cantrell is a low frequency disease within multiple pregnancy, characterized with malformations with five anomalies defects: lower sternal defect, midline supraumbilical abdominal wall defect, diaphragmatic pericardial defect, anterior diaphragmatic defect and various intracardiac malformations. We report a case in a patient in her first pregnancy of 22 year old, twin pregnancy. She is 27, 3 weeks pregnant, comes for ultrasound control of the gestation, where the following ultrasound results are found: anencephaly, facial abnormalities and the heart out of the chest cavity. The birth of the twins is given via caesarian section at 35 weeks; the first of normal appearance and the second with Pentalogy of Cantrell and other associated malformations