[Analysis of Prenatal Ultrasound Manifestations in 15 Cases of Cantrell Syndrome]. / Cantrell综合征15ä¾‹äº§å‰è¶ å£°è¡¨çŽ°åˆ†æž.

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.

Multidisciplinary treatment for a patient with Pentalogy of Cantrell in the COVID-19 pandemic.

In this article, we present a multidisciplinary approach for the treatment of a patient with Pentalogy of Cantrell, dextrocardia, perimembranous ventricular septal defect, secundum atrial septal defect, pulmonary valvular stenosis, and left ventricle diverticulum during the novel coronavirus disease 2019 pandemic.

Value of combination of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell / 中华超声影像学杂志

Objective:To explore the diagnostic value of first-trimester and mid-trimester ultrasound in screening fetal pentalogy of Cantrell, and to analyze missed and misdiagnosed cases.Methods:The fetal ultrasound image characteristics of pentalogy of Cantrell diagnosed in the Affiliated Suzhou Hospital of Nanjing Medical University from March 2018 to November 2022 were retrospectively analyzed. The necessary sections and key features of ultrasound images for diagnosing the disease in first-trimester and mid-trimester were summarized. The diagnostic value of ultrasound screenings in first-trimester and mid-trimester was analyzed, and the progression of the disease during pregnancy was understood, the missed diagnosis rate and misdiagnosis rate were calculated, and the reasons for missing diagnosis were analyzed. All fetuses were followed up to birth or induction of labor.Pentalogy of Cantrell was divided into types Ⅰ, Ⅱ, and Ⅲ according to Toyama′s research.Results:Among the 120 190 fetuses, 13 cases of pentalogy of Cantrell were diagnosed by ultrasound in first-trimester and mid-trimester. Ultrasound predominantly showed the fetal heart being malpositioned outside the chest and the fetal abdominal contents bulging outside the abdominal cavity, and the sternumal echo was partially or completely missed in some cases. All 13 cases were confirmed by follow-up, including 1 case of type Ⅱ, and 12 cases of type Ⅲ. In addition, 1 missed case of type Ⅱ pentalogy of Cantrell was followed up after birth. The correct diagnostic rates of fetal pentalogy of Cantrell using standard ultrasound sections during the first-trimester and mid-trimester were 99.9% and 100%, the sensitivity were 88.9% and 100%, the specificity were both 100%, the positive predictive values were both 100%, and the negative predictive values were 99.9% and 100%, respectively.Conclusions:First-trimester and mid-trimester ultrasound screenings have high diagnostic accuracy for pentalogy of Cantrell, and early detection and early diagnosis are of great clinical significance for the guidance of pregnancy outcomes.

The pentalogy of Cantrell: A rare and challenging prenatal diagnosis.

INTRODUCTION: The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases. PRESENTATION OF CASE: In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases. DISCUSSION: Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life. CONCLUSIONS: Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons.

Ectopia cordis: prenatal diagnosis, perinatal outcomes, and postnatal follow-up of an international multicenter cohort case series.

OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.

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.

Pulsating abdominal mass in a newborn - Pentalogy of Cantrell with left ventricular diverticulum.

Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team.

Clinical and ultrasound findings of pentalogy of Cantrell in a newborn: A case report.

Background: Pentalogy of Cantrell is a rare and deadly syndrome, manifesting as intracardiac anomalies and ventricular diverticulum. Echocardiographers have an insufficient understanding of pentalogy of Cantrell, which may lead to missed diagnoses, especially in cases lacking the most obvious signs. Case summary: One of twin male infants, at a gestational age of 37 weeks, was found with a cardiac murmur and a pulsatile mass in the midline supraumbilical abdomen for 2 days. Echocardiography on admission indicated congenital heart disease. A cardiac murmur was detected in the 3-4 intercostal space and extensively spread. The infant was diagnosed with pentalogy of Cantrell by ultrasound and computed tomography angiography (CTA) preoperatively. The patient underwent heart deformity surgery and was followed up for 16 months. The patient's cardiac structure and function returned to normal. Conclusion: Intracardiac anomaly and ventricular diverticulum are the primary manifestations of pentalogy of Cantrell. Pentalogy of Cantrell may be diagnosed by combining the ultrasound and CTA findings.

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

Pentalogy of Cantrell is a congenital anomaly of the median mesodermal constructions with a poor prognosis. It is characterized by defects of the anterior diaphragm, the lower sternum, the abdominal wall, pericardium, and various congenital heart malformations. We present a case of ectopia cordis and Pentalogy of Cantrell in a newborn of a healthy 35-year-old woman with no history of embryotoxic exposure or smoking. The infant was first diagnosed with the anomaly in the second trimester of pregnancy and was delivered at 35 weeks of gestational age via a caesarian section. Shortly after birth, he was transferred to the neonatal intensive care unit (NICU) due to progressive respiratory failure, which ultimately, along with septicemia, led to infant death on the second day. In conclusion, the Pentalogy of Cantrell should be appropriately assessed for effective prenatal counseling and postnatal management with a multidisciplinary team; since infant survival assessment and early diagnosis give the parents the option of terminating the pregnancy.

Radiological findings of partial expression pentalogy of Cantrell and other multiple congenital anomalies: A rare case report.

Pentalogy of Cantrell is a rare syndrome of anomalous malformation. In the present case, the syndrome was initially diagnosed as a complete pentad, including a supra-umbilical abdominal wall defect, a sternal defect, pericardial defects, an anterior diaphragmatic defect, and heart malformation. Diagnosis required several imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI). In this case report, we present an 8-month-old female patient with a thoracic wall defect with ectopia cordis and a bilateral cleft lip and palate. In addition, a head CT scan showed craniosynostosis, hypogenesis of the corpus callosum, and tonsillar cerebellar herniation. Thoracoabdominal CT revealed herniation of the transverse colon up to the subcutaneous layer, diaphragmatic hernia, atrial septal defects (ASD), ventral septal defects (VSD), and a persistent left superior vena cava (PLSVC). A multidisciplinary approach is required for the optimal management of this syndrome. We describe a female infant who presented with pentalogy of Cantrell syndrome and include the findings from postnatal CT imaging.

Pentalogy of cantrell. a stillbirth case report

ABSTRACT Introduction: Pentalogy of Cantrell is a rare congenital disorder characterized by midline birth anomalies. Its embryological origins are related to anomalies of the abdominal wall that prevent the closure of the thorax. Its etiology is not yet clear, but it has been associated with a failure of migration of the lateral plate mesoderm to the midline. Case description: A stillbirth at 25.2 weeks of gestation diagnosed with pentalogy of Cantrell. The mother was a 14-year-old teenager with no relevant history of disease. An obstetric ultrasound was performed at 19 weeks of gestation and revealed findings suggestive of pentalogy of Cantrell. The mother was informed of the potential risks and future complications for the fetus, yet she chose to continue with the pregnancy. At 25.2 weeks of gestation, the mother went to the emergency department due to pain in the hypogastrium accompanied by moderate vaginal bleeding and absence of fetal activity. Once fetal death was confirmed by ultrasound, labor was induced, resulting in stillbirth with anencephaly, thoracic hypoplasia, gastroschisis, and eventration of the liver. Conclusions: Adequate antenatal care, including strict ultrasound follow-up, is essential to detect future complications in the fetus; to provide advice on possible malformations incompatible with life, such as pentalogy of Cantrell; and to determine the best therapeutic approach.

RESUMEN Introducción. La pentalogía de Cantrell es una anomalía congénita rara que se caracteriza por malformaciones en la línea media del cuerpo, y cuyos orígenes embriológicos están relacionados con anormalidades de la pared abdominal que impiden el cierre del tórax. Su etiología aun no es clara, pero se ha asociado con una falla de la migración de los pliegues del mesodermo lateral a la línea media. Presentación del caso. Mortinato de 25.2 semanas de gestación diagnosticado con pentalogía de Cantrell. La madre era una menor de 14 años sin antecedentes patológicos. A las 19 semanas de gestación se realizó ecografía obstétrica que mostró imágenes sugestivas de pentalogía de Cantrell, y se le explicó a la gestante los riesgos y complicaciones futuras que presentaría el feto, pero esta decidió continuar con el embarazo. A las 25.2 semanas de gestación, la joven acudió al servicio de urgencias por dolor en hipogastrio acompañado de sangrado vaginal moderado y ausencia de actividad fetal. Una vez confirmada la muerte fetal mediante ecografía, se indujo el trabajo de parto, obteniéndose mortinato con anencefalia, hipoplasia de caja torácica, gastrosquisis y eventración del hígado. Conclusiones. La realización de adecuados controles prenatales, en los cuales se realice un seguimiento ecográfico estricto, es fundamental para detectar futuras complicaciones en el feto; brindar asesoría sobre posibles malformaciones que sean incompatibles con la vida, como la pentalogía de Cantrell, y establecer las mejores alternativas de manejo.

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.

Successful surgical repair of a sternum cleft using composite mesh: A case report and new technical note.

Sternal clefts are infrequent congenital malformations, particularly in their complete presentation. There are less than 100 descriptions of these defects published in the literature worldwide. We report a clinical case of lower sternal cleft associated with congenital laparoschisis in a 2-year-old boy. Surgery was performed because of recurrent pneumopathy and the risk of cardiorespiratory decompensation in the midterm. A semi-resorbable prosthesis was used for sternal closure. We have not observed any complications with this sternal closure system in our patient. This approach is easy, safe, effective and not harmful to a child's growth.

Four ectopia cordis cases surgically managed with different strategies.

Ectopia cordis is a rare congenital disorder in which the heart is partially or completely located outside the chest cavity. In this article, we present four cases of ectopia cordis accompanied by cardiac abnormalities with either thoracic and/or abdominal placed heart, managed with strategies ranging from follow-up without any intervention to complete surgical closure.

[Ventricular diverticulum in Cantrell´s pentalogy: rare but not isolated entities]. / Divertículo ventricular en pentalogía de Cantrell: entidades infrecuentes, pero no aisladas.

Pentalogy of Cantrell is a rare entity characterized by a combination of alterations, among which the following stand out: defects of the pericardium, heart, diaphragm, lower third of sternum and abdominal wall. On the other hand, congenital cardiac diverticulum is a rare malformation whose presentation is associated with Cantrell's pentalogy in some cases. We present the case of a child with Cantrell's pentalogy who, during follow-up, was diagnosed with left ventricular diverticulum, which required surgical management with a favorable outcome. Addressing these conditions requires the use of cardiovascular images that allow timely decision-making by the treating team.

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.

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.