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.

Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center.

We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study, we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell. Five multiple pregnancies were found, four were twin pregnancies (three dichorionic diamniotic, one monochorionic monoamniotic) and one was triplet (trichorionic triamniotic). In the monochorionic monoamniotic twin pregnancy, both fetuses have pentalogy of Cantrell. Two cases had intracardiac structural defects including Tetralogy of Fallot and hypoplastic right heart syndrome. Three pregnancies were terminated, four cases delivered alive could not survive beyond the neonatal period. The striking feature in our study is its association with multiple pregnancies.

A complete case of Cantrell's Pentalogy with isolated left ventricular diverticulum.

The congenital left ventricular diverticulum is a rare cardiac malformation, and it may associate with Cantrell's Pentalogy with other cardiac defects. However, isolated ventricular diverticulum without any other cardiac defect in complete Cantrell's syndrome is very rare. We describe a 6-year-old male patient with a complete Cantrell's syndrome with isolated left ventricular diverticulum.

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.

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.

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.

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.

The complete spectrum of pentalogy of Cantrell in one of a set of dizygotic twins: A case report of a rare congenital anomaly.

RATIONALE: Pentalogy of Cantrell (POC) is an extremely rare syndrome with an estimated incidence of 1:65,000 to 200,000 live births. Its complete form includes a midline epigastric abdominal wall defect, defects affecting the lower sternum, anterior diaphragm, diaphragmatic pericardium, and various intracardiac defects. PATIENT CONCERNS: We report a case of complete POC affecting only the first-born of a set of premature dizygotic twins. DIAGNOSIS: A giant omphalocele with an eviscerated liver and bowel on prenatal, obstetric ultrasonography at 24 gestational weeks was observed. At birth, physical examination confirmed a massive (10 × 8 cm) epigastric omphalocele in which a significant part of the liver was seen. A postnatal echocardiogram revealed the presence of an ostium secundum atrial septal defect, perimembranous ventricular septal defect, and moderate pulmonary stenosis. X-ray showed an abnormal intrathoracic positioned stomach, which was confirmed with a plain x-ray of the upper intestinal tract with hydrosoluble contrast. Computed tomography (CT) scan revealed the sternum's absence and a close connection between the pericardial sac and the stomach wall. INTERVENTIONS: The patient underwent surgical intervention at 18 days of age. OUTCOMES: Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72 hours after surgery. LESSONS: POC is a complex, high-mortality syndrome whose management requires a multidisciplinary approach and meticulous planning. Despite all efforts, POC carries a poor prognosis, particularly in patients affected by its complete form.

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

Bloqueo caudal más anestesia general balanceada en un paciente con pentalogía de Cantrell, presentación de un caso clínico / Caudal block plus inhaled general anesthesia in a patient with pentalogy of Cantrell, presentation of a clinical case

The pentalogy of Cantrell is a disorder characterized by congenital abnormalities in the abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium, and cardiac anomalies. It is a rare disease with 250 cases registered around the world. The anesthetic implications will require a specialized management given the ventilatory mechanics and cardiac function which are compromised by the disease in the newborn. We present the case of a female patient with pentalogy of Cantrell without prenatal diagnosis, who had an operative procedure to correct patent ductus arteriosus and abdominal mesh placement under balanced general anesthesia with sevoflurane and fentanyl plus caudal block. This case is reported to provide our experience in the anesthetic management of this type of patients.

La pentalogía de Cantrell es una enfermedad caracterizada por anormalidades congénitas de la pared abdominal supraumbilical, esternón inferior, diafragma, pericardio diafragmático y anomalías cardiacas. Se trata de una enfermedad rara con 250 casos registrados alrededor del mundo. Las implicaciones anestésicas requieren de un manejo especializado debido a la mecánica ventilatoria y función cardíaca que se encuentran comprometidas en el recién nacido. Se presenta el caso de una recién nacida portadora de pentalogía de Cantrell, no diagnosticada prenatalmente, quien fue sometida a corrección de ductus arterioso persistente y colocación de malla abdominal bajo anestesia general balanceada con sevofluorano y fentanilo más bloqueo caudal. Se reporta el presente caso para brindar nuestra experiencia en el manejo anestésico de este tipo de pacientes.

Electrophysiological changes of the spinal cord during thoracoabdominal aortic clamping -- Experimental study / Thoracoabdominalis aortakirekesztés során fellépo elektrofiziológiai változások a gerincveloben

Severe neurological complications of the thoracoabdominal aortic clamping were published in numerous clinical and experimental studies. These hardly predictable, devastating consequences demanded to develop a monitoring system which might detect impending level of spinal cord ischemia in time ­ in order to introduce or enhance protective procedures and prevent permanent neurological deficit. The most widely used monitoring in clinical practice is the continuous surveillance of the motor evoked potentials (MEP) during and after thoracoabdominal aortic clamping. Much less used, but promising opportunity is to control the metabolic changes and cellular integrity utilizing specific markers like liquor lactate and neuron specific enolase (NSE) etc. In our earlier study we published data of our canine experiment related to coherencies between neurological outcome and specific perfusion of the spinal cord during and after one hour thoracoabdominal aortic clamping. In the present paper we investigate the behavior of motor evoked (MEP) and sensory evoked (SEP) potentials related to neurological changes. We conclude the behavior of SEP values hardly correlate with the neurologic outcome, meanwhile decrease of MEP amplitude provides reliable signal for developing spinal cord ischemia. We could not confirm a numeric correlation of these data and the level of the final neurologic outcome.

A propósito de un caso: Resolución quirúrgica en dos tiempos de Pentalogía de Cantrell / Case Report: Two-stage surgical resolution of Cantrell's Pentalogy

INTRODUCCIÓN: La pentalogía de Cantrell abarca la presencia de cinco defectos congénitos que representan un gran desafío para los cirujanos. Las anomalías del corazón, pericardio, diafragma, esternón y pared abdominal anterior son los hallazgos principales. Su incidencia es baja, sin embargo, es fundamental identificarla oportunamente para adoptar una terapia adecuada para todos los defectos descritos, puesto que se reporta una mortalidad elevada. CASO CLÍNICO: Se trató de un recién nacido a término, de sexo masculino, con antecedentes de defecto de la pared abdominal compatible con onfalocele detectado mediante ecografía prenatal. Tras cesárea programada, se evidenció defecto en la pared abdominal a través del cual emergían el lóbulo hepático izquierdo, intestinos y corazón; el esternón además presentaba una fisura baja. En ecocardiograma se evidenció foramen oval permeable, insuficiencia tricuspídea leve e hipertensión pulmonar severa. EVOLUCIÓN: Se decidió su manejo quirúrgico inmediato. Se colocó silo, con cierre progresivo de la línea media en 7 días. En segundo tiempo quirúrgico, se corrigió el defecto diafragmático y pericárdico con prótesis de pericardio bovino. Pese a la evolución adecuada de la cirugía, a los 28 días, el paciente presentó cianosis súbita, sin responder a maniobras de reanimación y falleció. CONCLUSIÓN: La Pentalogía de Cantrell es una enfermedad rara, con características clínicas, anatómicas y embriológicas peculiares, representa un desafío único para los cirujanos. Su diagnóstico temprano, así como el seguimiento durante el embarazo, la planificación de una cesárea en un centro de alto nivel y la aproximación quirúrgica inmediata con un equipo multidisciplinario, son componentes clave en el manejo integral de pacientes con Pentalogía de Cantrell.

BACKGROUND: Cantrell's pentalogy includes the presence of five birth defects that represent a great challenge for surgeons. Abnormalities of the heart, pericardium, diaphragm, sternumand anterior abdominal wall are the main findings. Its incidence is low, however, it is essential to identify Cantrell´s pentalogy timely to adopt an adequate therapy for all specific defects, since it has high mortality. CASE REPORT: The patient was a full- term male newborn, with a history of abdominal wall defect compatible with an omphalocele detected by prenatal ultrasound. After the caesarean section, the abdominal wall defect was notable, the left liver lobe, intestines and heart emerged through it, the sternum also had a low fissure. The echocardiogram revealed a permeable oval foramen, mild tricuspid regurgitation, and severe pulmonary hypertension. EVOLUTION: Immediate surgical management was decided. Silo was placed, with progressive closure of the midline in 7 days. During the second surgical procedure, the diaphragmatic and pericardial defect was corrected with a bovine pericardial prosthesis. Despite the adequate evolution after surgery, at day 28 he presented with sudden cyanosis and didn't respond to cardiopulmonary resuscitation and died. CONCLUSIONS: Cantrell's Pentalogy is a rare disease, with peculiar clinical, anatomical and embryological characteristics, it represents a unique challenge for surgeons. Early diagnosis, as well as follow-up during pregnancy, planning a cesarean section in a high-level center and immediate surgical approach with a multidisciplinary team, are the key components in the management of patients with Cantrell's Pentalogy.

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.