RESUMEN
Objective: Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes. Methods: A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed. Results: The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants. Conclusion: In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester.
Asunto(s)
Pentalogía de Cantrell , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Pentalogía de Cantrell/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Estudios Retrospectivos , Medida de Translucencia Nucal , Edad Gestacional , AdultoRESUMEN
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.
Asunto(s)
Humanos , Femenino , Embarazo , Adulto Joven , Pentalogía de Cantrell/diagnóstico por imagen , Primer Trimestre del Embarazo , Ultrasonografía Prenatal , Aborto Inducido , Ectopía Cordis/etiología , Pentalogía de Cantrell/cirugía , Pentalogía de Cantrell/complicacionesRESUMEN
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.
Asunto(s)
Divertículo , Ectopía Cordis , Cardiopatías Congénitas , Pentalogía de Cantrell , Recién Nacido , Humanos , Ectopía Cordis/cirugía , Pentalogía de Cantrell/cirugía , Ventrículos Cardíacos , Mutación , Divertículo/cirugíaRESUMEN
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.
Asunto(s)
Ectopía Cordis , Enfermedades Fetales , Humanos , Femenino , Embarazo , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/patología , Ectopía Cordis/diagnóstico por imagen , Ectopía Cordis/patología , Edad Gestacional , Diagnóstico Prenatal , Adulto , Estudios Retrospectivos , Resultado del Embarazo , Recién Nacido , Pentalogía de Cantrell/diagnóstico por imagen , Pentalogía de Cantrell/patologíaRESUMEN
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.
Asunto(s)
Divertículo , Cardiopatías Congénitas , Pentalogía de Cantrell , Masculino , Humanos , Niño , Pentalogía de Cantrell/complicaciones , Pentalogía de Cantrell/diagnóstico , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/diagnóstico por imagen , Divertículo/diagnóstico , Divertículo/diagnóstico por imagen , SíndromeRESUMEN
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.
Asunto(s)
Cardiopatías Congénitas , Pentalogía de Cantrell , Procedimientos Quirúrgicos Torácicos , Niño , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Humanos , Lactante , Pentalogía de Cantrell/diagnóstico por imagen , Pentalogía de Cantrell/cirugía , Estudios Retrospectivos , Resultado del TratamientoRESUMEN
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.
Asunto(s)
Ectopía Cordis , Pentalogía de Cantrell , Ectopía Cordis/diagnóstico por imagen , Ectopía Cordis/cirugía , Femenino , Humanos , Pentalogía de Cantrell/diagnóstico por imagen , Pentalogía de Cantrell/cirugía , Embarazo , Diagnóstico Prenatal , Ultrasonografía PrenatalRESUMEN
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.
Asunto(s)
Cardiopatías Congénitas , Pentalogía de Cantrell , Cardiopatías Congénitas/cirugía , Humanos , Recién Nacido , Anomalías Musculoesqueléticas , Pentalogía de Cantrell/diagnóstico , Pentalogía de Cantrell/cirugía , Pericardio/anomalías , Pericardio/cirugía , Esternón/anomalías , Esternón/cirugíaRESUMEN
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.
Asunto(s)
Pared Abdominal , Divertículo , Cardiopatías Congénitas , Defectos del Tabique Interventricular , Pentalogía de Cantrell , Pared Abdominal/anomalías , Divertículo/diagnóstico , Divertículo/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Defectos del Tabique Interventricular/complicaciones , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/cirugía , Humanos , Pentalogía de Cantrell/diagnóstico , Pentalogía de Cantrell/cirugíaRESUMEN
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 (10â×â8âcm) 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 18âdays of age. OUTCOMES: Despite adequate and appropriate postoperative treatment, the baby rapidly deteriorated and died 72âhours 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.
Asunto(s)
Enfermedades en Gemelos/diagnóstico , Enfermedades del Prematuro/diagnóstico , Pentalogía de Cantrell/diagnóstico , Gemelos Dicigóticos , Resultado Fatal , Humanos , Recién Nacido , Recien Nacido Prematuro , MasculinoRESUMEN
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.
Asunto(s)
Cardiopatías Congénitas , Pentalogía de Cantrell , Adulto , Femenino , Feto , Humanos , Recién Nacido , Pentalogía de Cantrell/diagnóstico por imagen , Embarazo , Embarazo Gemelar , Ultrasonografía PrenatalRESUMEN
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.
Asunto(s)
Humanos , Femenino , Recién Nacido , Conducto Arterioso Permeable/cirugía , Pentalogía de Cantrell/complicaciones , Anestesia Caudal/métodos , Anestesia General/métodos , Fentanilo/administración & dosificación , Sevoflurano/administración & dosificación , Hernia InguinalRESUMEN
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.
Asunto(s)
Aorta/cirugía , Potenciales Evocados Motores , Médula Espinal/irrigación sanguínea , Animales , Constricción , Perros , Pentalogía de Cantrell , Fosfopiruvato HidratasaRESUMEN
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.
Asunto(s)
Humanos , Masculino , Recién Nacido , Anomalías Congénitas , Pentalogía de Cantrell , Hernia Umbilical , Cuidados Posteriores , Pared AbdominalRESUMEN
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.