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.

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.

Diagnóstico prenatal de Pentalogía de Cantrell: reporte de caso / Prenatal diagnosis of Pentalogy of Cantrell: A case report / Prenatal diagnosis of Pentalogy of Cantrell: A case report

RESUMEN La pentalogía de Cantrell es la conjunción de cinco defectos congénitos (defectos del corazón, pericardio, diafragma, esternón y la pared abdominal anterior), que representa un desafío único para los gineco-obstetras. Aunque la incidencia es pequeña, es fundamental identificarlo en el primer trimestre. En este reporte se comunica un caso de pentalogía de Cantrell diagnosticado en su primer control prenatal en el segundo trimestre de gestación.

ABSTRACT The Pentalogy of Cantrell is the conjunction of five congenital defects (defects of the heart, pericardium, diaphragm, sternum and anterior abdominal wall) which represents a unique challenge for the obstetrician gynecologist. Although its incidence is small, it is essential to identify it early in the first trimester. A case of Pentalogy of Cantrell is reported, diagnosed in the first prenatal control in the second trimester of pregnancy.

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

Abstract Pentalogy of Cantrell is a congenital anomaly associated with defects in the abdominal wall, sternum, diaphragm, and diaphragmatic pericardium formation, in addition to the development of cardiac abnormalities. It is a rare disease with an estimated incidence of one case for every 65,000 births, being more common in males (60% of cases). It has a reserved prognosis with mortality around 63%, and a maximum of 9 months survival after surgery. There are few case reports addressing the pentalogy of Cantrell, which is justified by the rarity of this pathology. In this report our objective was to describe a surgical case of a female patient and make some anesthetic considerations about this rare congenital malformation.

Resumo A pentalogia de Cantrell é uma anomalia congênita associada a defeitos na formação da parede abdominal, do esterno, diafragma e pericárdio diafragmático, além do desenvolvimento de anomalias cardíacas. É uma doença rara, com incidência estimada em um caso para cada 65.000 nascimentos, mais comum no sexo masculino (60% dos casos). Apresenta prognóstico reservado com mortalidade em torno de 63% e sobrevida após procedimento cirúrgico de no máximo nove meses. São escassos os relatos de casos referentes à pentalogia de Cantrell, o que se justifica pela raridade dessa patologia. Com este relato, os autores objetivam descrever um caso cirúrgico, em paciente do sexo feminino, e tecer algumas considerações anestésicas sobre essa malformação congênita rara.

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.

Incomplete pentalogy of Cantrell: a case report

Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. Authors report a case of male foetus terminated at 20 weeks of gestation with an Incomplete (class 3) pentalogy of Cantrell presenting with gastroschisis, ectopia cordis and absence of lower sterna. Prognosis of pentalogy of Cantrell depends on severity of intra and extra cardiac defects, pulmonary hypoplasia, extent of abdominal wall defect, cerebral anomalies and diaphragmatic herniation. Full pentalogy of Cantrell is a severe and rare syndrome, but incomplete forms with combination of two or three defects are reported frequently similar to present case report.  Early diagnosis through obstetric ultrasound would help in improved informed clinical decision making on the part of the obstetrician and family.

Value of prenatal ultrasonography in diagnosis of Pentalogy of Cantrell / 中华全科医师杂志

Four cases of Pentalogy of Cantrell were diagnosed by prenatal ultrasonography and confirmed by autopsy after labor induction.There were 1 case of complete Pentalogy of Cantrell and 3 cases of incomplete Pentalogy.In 3 cases of incomplete Pentalogy of Cantrell,1 case presented with high umbilical cord prolapse,extraspectoral heart,partial defect of the lower part of the sternum,partial defect of the pericardium,single umbilical artery and cervical lymphatic cyst;1 case presented with high umbilical cord prolapse,extraspectoral heart,thoracic fissure and ventricular septal defect;and 1 case presented with umbilical cord,extraspectoral heart,partial inferior sternal segment defect,ventricular septal defect and bilateral clubfoot varus.In l case of complete Pentalogy of Cantrell,there were high umbilical cord bulge,extraspectoral heart,chest fissure and inferior segment defect,anterior diaphragm and pericardium defect,total forebrain deformity,right 12th ribs loss and ventricular septal defect.Ectopic heart and omphalocele are typical echographic features of Pentalogy of Cantrel and prenatal ultrasonography is of important value in early diagnosis of this congenital malformation.

Pentalogía de Cantrell. Reporte de caso / Pentalogy of Cantrell. Case report

La pentalogía de Cantrell es una anomalía congènita que se caracteriza por la asociación variable de un defecto de la pared toracoabdominal a defectos de la porción inferior del esternón, del diafragma, del pericardio y cardiacos; entre estos el más representativo es la ectopia cordis. Cantrell reportó en 1958 5 casos con esta anomalía. La prevalencia de pentalogía de Cantrell ha sido estimada entre 1/65 000 a 1 en 200 000 nacidos vivos. La etiología de esta anomalía no es clara y se considera heterogènea. El mecanismo embriopatológico propuesto sugiere que existe una falla en la migración ventral de cèlulas mesodèrmicas. Se reporta un caso de pentalogía de Cantrell con todas las características clásicas, con diagnóstico prenatal. Además se propone una hipótesis sobre la embriopatogènesis y un manejo integral de la madre y el feto.

The pentalogy of Cantrell is a congenital anomaly characterized by variable association of a thoracoabdominal wall defect to defect of the lower sternum, diaphragm, pericardium and heart, the most representative is ectopia cordis. Cantrell in 1958 reported 5 cases with this anomaly. The prevalence of pentalogy of Cantrell has been estimated between 1 /65,000 to 1 in 200,000 live births. The etiology of this anomaly is not clear and is considered heterogeneous. The mechanism proposed embriopatológico suggests aflaw in the ventral migration of mesodermal cells. We report a case of pentalogy of Cantrell with all the classic features with prenatal diagnosis. It also suggests a hypothesis about the embriopatogénesis and integrated management of the mother and fetus.

Pentalogía de Cantrell y bandas amnióticas: reporte de un caso y revisión de la literatura / Pentalogy of Cantrell and amniotic bands: A case report and review of the literature

Objetivo: reportar un caso de pentalogía de Cantrell asociado a acranea, hendidura facial medial y reducción de las extremidades derechas originado por bandas amnióticas. Realizar una revisión de la literatura sobre la patogénesis de las bandas amnióticas y los hallazgos en el caso reportado.Materiales y métodos: se presenta el caso de un recién nacido muerto, con malformaciones congénitas antes mencionadas, hijo de madre primigestante de 15 años con 34 semanas de gestación, que consultó al Hospital Universitario del Valle (HUV), hospital de nivel III y IV de referencia en obstetricia, de la red pública del suroccidente colombiano. Como fuente de información se utilizó la historia clínica, fotografías del recién nacido y los Rayos X.Se realizó una búsqueda de literatura con las palabras clave "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" en las bases de datos Medline vía PubMed en inglés y español, sin límite de tiempo; se buscaron reportes de caso, revisiones de tema y series de casos.Resultados: se encontraron treinta artículos, se analizaron todas las referencias y se halló que catorce corresponden a reportes de caso, ocho a revisiones de tema y ocho a series de casos.Conclusiones: se reporta un caso de pentalogía de Cantrell, posiblemente por bandas amnióticas originadas en el desarrollo embrionario. El caso se clasificó como complejo cuerpo-extremidad (LBWC), secundario a bandas amnióticas.

Objective: To report a Pentalogy of Cantrell case associated with acrania, medial facial cleft and reduction of the right limbs as a result of amniotic bands; and to conduct a review of the literature on the pathogenesis of amniotic bands and the findings of the reported case.Materials and methods: Case report of a demised neonate with the above mentionated congenital malformations born to a 15 year-old primigravida in her 34 weeks of gestation who came to Hospital Universitario del Valle (HUV), a level III and IV referral hospital for obstetrics belonging to the public network in south-western Colombia. The clinical record, photographs of the neonate and X-Ray images were used as the sources of information. A search in the literature was conducted using the terms "Pentalogy of Cantrell and amniotic band syndrome", "Limb body wall complex and amniotic band syndrome" through PubMed in the Medline databases in English and Spanish, with no time limitation; the search included case reports, topic reviews and case series.Results: Overall, 30 articles were found and all the references were analysed; 14 were case reports, 8 were topic reviews and 8 were case series.Conclusions: Report of a Pentalogy of Cantrell case, probably resulting from amniotic bands arising during embryo development. It was classified as a limb body wall complex (LBWC), secondary to amniotic bands.

Pentalogia de Cantrell con un gemelo sano: reporte de caso

Se comunica un caso de pentalogía de Cantrell en embarazo gemelar, en el cual solo uno de los fetos presentó el síndrome; el segundo feto no portaba malformación congénita. Este hecho podría reforzar teorías epigenéticas sobre su origen. Se hace alcances sobre el diagnóstico prenatal, la etiología y posibilidad de manejo en estos casos.

A case of pentalogy of Cantrell pathology in only one fetus of a twin pregnancy is reported; no congenital malformation was found in the second fetus. This fact would endorse epigenetic theories on its origin. Some thoughts on prenatal diagnosis, etiology and management of these cases are discussed.

Diagnóstico prenatal de pentalogía de Cantrell / Prenatal diagnosis of pentalogy of Cantrell

La pentalogía de Cantrell fue descrita por vez primera en 1958, y consiste en 5 defectos. Tiene una incidencia estimada de 5,5 por 1 millón de nacidos vivos, y su patogénesis no está esclarecida. Se presenta un caso en el que se diagnosticó prenatalmente este defecto de baja frecuencia

Pentalogy of Cantrell was firstly described in 1958 and consists of 5 defects. It has an estimated incidence rate of 5.5 per one million livebirths and the pathogenesis is not clarified. This is the case of a prenatal diagnosis of this low frequency defect

Pentalogía de cantrell asociado a ectopia cordis: a propósito de un caso / Pentaloy of canttrell associated with ectopia cordis: report of a case

La pentalogía de Cantrell es un conjunto de anormalidades poco frecuentes que engloba a un defecto de la pared abdominal supraumbilical, la parte inferior del esternón, agenesia de la porción anterior del diafragma, ausencia de la cara diafragmática del pericardio y malformación cardiaca. Se presenta la descripción del seguimiento de un caso de una paciente de 32 años, con embarazo aparentemente normal, con movimientos fetales poco disminuidos durante la evolución del embarazo, además de la presión arterial materna ligeramente elevada. Por estudio ecográfico se detecta oligohidramnios severo y malformaciones congénitas que corresponden a Pentalogía de Cantrell. Terminando la gestación se decide prudentemente practicar la cesárea debido al ya diagnosticado síndrome de Cantrell. Una hora previa a la cesárea la paciente refiere no percibir movimientos fetales. Del acto quirúrgico se obtiene un producto único vivo sin llanto con solo movimientos de miembros que vive aproximadamente unos 30 segundos, presentando las características ya mencionadas de la pentalogía de Cantrell asociada a ectopia cordis, además de otras anomalías subsecuentes a estas.

The Pentalogy of Cantrell is a rare set of abnormalities that includes a supraumbilical abdominal wall defect, agenesis of the anterior portion of the diaphragm, absence of the diaphragmatic pericardium and cardiac malformation. We present a description of the monitoring of a case of a patient of 32 years, with apparently normal pregnancy, with fetal movements slightly decreased during the course of pregnancy, and maternal blood pressure slightly elevated. An ultrasound detected severe oligohidramnios and congenital malformations corresponding to Pentalogy of Cantrell. Ending the pregnancy due to the diagnosis is decided wisely to practice cesarean. One hour prior to cesarean the patient reports fetal movements not perceived. By the surgical procedure is obtained a unique product alive, without weeping, little movement members, that only lives about 30 seconds, presenting the aforementioned characteristics of the Pentalogy of Cantrell associated with ectopia cordis, and other anomalies subsequent to these.

Prenatal ultrasound diagnosis of Cantrell's syndrome and image analysis / 中华医学超声杂志（电子版）

ObjectiveTo summarize prenatal ultrasound image features of Cantrell′s syndrome (Cantrell′s pentalogy).MethodsFrom January 2007 to December 2013 in Shenzhen Maternity & Child Healthcare Hospital, there were twenty cases diagnosed and conifrmed by postmortem as Cantrell′s syndrome. The prenatal ultrasound image features and outcomes were analyzed.ResultsAmong the twenty cases, eighteen were singleton and two were twins with the other normal fetus. Prenatal ultrasound image: two obvious ultrasound image features of ectopic heart and hight omphalocele (seventeen cases) or gastroschisis (three cases) were appeared in prenatal ultrasound of twenty cases. Fourteen cases were complete ectopic heart (Ectopic heart was located within the omphalocele in one case, ectopic heart was completely exposed in amniotic lfuid in thirteen cases), six cases were incomplete ectopic heart, three cases were ventricular septal defect in which one was associated with pulmonary stenosis, two cases were single atrium and single ventricle in which one was associated with a single arterial trunk, one case was tetralogy of Fallot, and six cases were without signiifcant heart abnormalities. Associated with other abnormalities: seventeen cases were associated with other abnormalities in twenty cases, in which eleven cases were spinal abnormalities, nine cases were umbilical cord abnormalities (short umbilical cord in six cases, single umbilical artery in two cases, short umbilical cord associated with single umbilical artery in one case), ifve cases were neurological abnormalities (exencephalia in four cases, encephalocele in one case), four cases were limb abnormalities, three cases were cheilopalatognathus, one case was giant bladder. Three cases weren′t associated with other abnormalities. Nuchal Translucency: in eight cases, nuchal translucency were measured in early pregnancy. Nuchal translucency of ifve cases were thick, one case was cervical hygroma in one of the two twins. Chromosome examination results: only three cases had chromosome examination in twenty cases, in which one case was trisomy 21, another two were chromosome normal. Fetal outcome and examination results: in twenty cases, one of the two twins can′t survive after birth, and the other one of two twins was reduced in intrauterine, so the specimen could not be obtained. Eighteen cases of singleton underwent labor induction. The results of postmortem appearance (nineteen cases) and autopsies (ifve cases) were all consistent with prenatal ultrasound scan.ConclusionsEctopic heart and hight omphalocele or gastroschisis appearing at the same time was the characteristic of Cantrell′s syndrome in prenatal ultrasound and other abnormalities may be part of the Cantrell′s syndrome spectrum. It is beneift to detect and diagnose Cantrell′s syndrome by prenatal ultrasound in the ifrst trimester.

Repair of Inferior Sternal Cleft Using Bilateral Sternal Bar Turnover Flaps in a Patient with Pentalogy of Cantrell

We report a case of sternal reconstruction using bilateral sternal bar turnover flaps in a 4-year-old boy with an inferior sternal cleft, as part of Cantrell's pentad. When the patient was 10 months old, he underwent sternal reconstruction using a resorbable poly-L-lactic-polyglycolic acid plate in the first stage when there was insufficient autogenous tissue to provide a reliable reconstruction. Bilateral sternal bar turnover was performed in the second stage at 4 years of age. This operative technique is described in this report. This novel technique provides a robust, dynamic, and reliable reconstruction for inferior sternal defects.

Pentalogía de Cantrell: presentación de un caso clínico / Pentalogy of Cantrell: clinical case

La pentalogía de Cantrell es una enfermedad poco frecuente que resulta de alteraciones embriológicas del mesodermo, caracterizada por defecto en la porción baja esternal, defecto de la pared abdominal supraumbilical, defecto diafragmático anterior, defecto del pericardio diafragmático y anomalía cardiaca. Caso clínico: Se presenta el caso de un neonato de sexo masculino con diagnóstico prenatal de defecto de la pared abdominal, en quien posteriormente se realizó el diagnóstico de Pentalogía de Cantrell. Al presentar este caso se destaca la posibilidad diagnóstica en la vida fetal, y el pobre pronóstico de estos pacientes cuando su presentación clínica se asocia a hipoplasia pulmonar severa.

Pentalogy of Cantrell is a rare disease that results from alterations in embryo development. It is characterized by defects of the lower sternum, midline supraumbilical abdominal wall defect, deficiency of the anterior diaphragm, defects in the diaphragmatic pericardium and cardiac anomaly. Case Report: The case of a male neonate with a prenatal diagnosis of abdominal wall defect is presented, who was subsequently diagnosed with Pentalogy of Cantrell. This study emphasizes the prenatal diagnosis possibilities and the poor prognosis for these patients when their clinical presentation is associated with severe lung hypoplasia.

Pentalogía de cantrell (ectopia cordis): reporte de un caso / Pentalogy of cantrell (ectopia cordis): report of one case

La pentalogía de Cantrell involucra defectos de la línea media abdominal supraumbilical, parte inferior del esternón, diafragma anterior, pericardio diafragmático y malformaciones congénitas intracardiacas (1, 2). Su pronóstico está supeditado al diagnóstico temprano, la severidad de la malformación cardiaca y las anomalías asociadas (3). Se reporta el caso de una gestante de 28 semanas con diagnóstico fetal de pentalogía de Cantrell: ectopia cordis verdadera toraco-abdominal (con anomalía intracardiaca) y fisura esternal, y se resalta el diagnóstico prenatal que permitió definir su pronóstico y planear el manejo.

Pentalogy of Cantrell involves defects of the midlline supraumbilical abdomen, lower sternum, anterior diaphragm, diaphragmatic pericardium and intracardiac congenital defects. Prognosis depends on early diagnosis, severity of cardiac malformation and associated anomalies. We report the case of a 28 weeks pregnant woman with fetal diagnosis of pentalogy of Cantrell: true thoraco-abdominal ectopia cordis (with intracardiac anomaly) and sternal cleft, and highlight prenatal diagnosis that allowed to define prognosis and plan management.

Summary of surgical experience of eight cases with pentalogy of cantrell / 中华胸心血管外科杂志

Objective To summarize surgical experience of eight patients with pentalogy of Cantrell. Methods Six male and two female patients with pentalogy of Cantrell,aged from 4 months to 26 years old, average 7.35 years old, underwent surgical therapy for intracardiac anomalies and extracardiac anomalies from July 2007 to June 2009. Eight case with intracardiac anomalies include one case with only VSD, one case with only ASD, two cases with DORV, four cases with VSD and ASD or PTO. Experts majoring in cardiovascular surgery cooperated with doctors majoring in thoracic surgery and general surgery for satisfactory correction of intracardiac anomalies and extracardiac anomalies and repositioning heart to thoracic cavity. Results Ectopic heart of the first patient was simply repositioned into thoracic cavity following surgery of double outlet of right ventricle in another hospital two years before. Correction of introcardiac anomaly and reposition of ectopic heart finished at one time in 7 cases. Eight patients got full recovery except that residual shunt occurred in the second case which also got full recovery after transcatheter therapy. Ventricular diverticulum was removed in the fourth case because of difficult reposition of ectopic heart.With the help of general surgeon and thoracic surgeon, partial coronary ligament of liver and falciform ligament of liver in the left was cut in the first case and the left half lobe of liver was pushed downward. Bilateral pleural and marginal costal costochondral was cut and make thoracic wall upward so that ectopic heart can reset into thoracic cavity. And then, defect of diaphragm and abdominal wall were repaired with Proceed patch. In the other seven cases, bilateral pericardium and mediastinal pleura was cut and the 7th and 8th cartilage was transected and bilateral costal arch was closed so for complete thoracic angioplasty.Left ventricular dysfunction occurred in the fifth case with DORV and also got full recovery after symptomatic treatment. Full recovery was got in all cases after followingup from 1 to 23 months. No adverse complications occurred and every case live a wonderful life. Conclusion Pentalogy of Cantrell can be cured at one time by accurate correction of cardiac anomalies, cutting of bilateral pleural and marginal costal costochondral to make thoracic wall upward and enlarge thoracic space for repositinning of ectopic heart and using artificial patch to repair defect of diaphragm when necessary.

Pentalogía de Cantrell en un recién nacido expuesto en útero a misoprostol / Pentalogy of Cantrell in a newborn associated with prenatal exposure to misoprostol

El misoprostol es un análogo sintético de la prostaglandina E1 y es usada por sus efectos utero-tónicos como abortivo. En los países donde se utiliza como abortivo sin éxito durante el primer trimestre de gestación, se han informado un espectro de malformaciones congenitas asociadas con la exposición prenatal, que incluyen el síndrome de Moebius, defectos de la pared abdominal, artrogriposis y anomalías por reducción de los miembros, entre otros. La pentalogía de Cantrell (PC), con una prevalencia de 1 en 65.000 nacidos vivos, es un síndrome polimalformativo que consta de 5 anomalías: un defecto de la pared abdominal, defecto esternal inferior, defecto del diafragma anterior, defecto pericárdico diafragmático y anormalidades congenitas del corazón. Se reporta un caso de pentalogía de Cantrell asociado al uso de misoprostol en el primer trimestre de la gestación, siendo este reporte el primer registro de esta asociación.

Misoprostol is a synthetic analogue of prostaglandin E1 and is used for effects such as uterotonic aborti-facient. In countries where abortion is used as unsuccessful in the first trimester of gestation, reported a spectrum of congenital malformations associated with prenatal exposure, which include Moebius syndrome, abdominal wall defects, and anomalies as artrogriposis reduction members, among others. The pentalogy of Cantrell with a prevalence of 1 in 65,000 live births, is a syndrome consisting of 5 abnormalities: a defect in the abdominal wall, lower sternal defect, defect above the diaphragm, diaphragmatic pericardial defect, and congenital abnormalities of the heart. We report a case of Pentalogy of Cantrell associated with the use of misoprostol in the first trimester of pregnancy, this report is the first record of this association.

Pentalogía de Cantrell: actualización y nuevas perspectivas / Pentalogy of Cantrell: update and new perspectives

La pentalogía de Cantrell es una enfermedad rara, con características clínicas, anatómicas y embriológicas peculiares. Esta entidad es una variedad toracoabdominal de la ectopia cordis en la que se asocian cinco anomalías: defecto epigástrico de la línea media abdominal supraumbilical, defecto del tercio inferior del esternón, deficiencia del segmento anterior del diafragma, defectos pericárdicos y malformaciones cardíacas congénitas. La comunicación interventricular e interauricular se encuentra en la mitad de los casos y puede asociarse a otras anomalías extracardíacas como espina bífida, diversas malformaciones del sistema nervioso central, divertículo de Meckel, poliesplenia, entre otros. El diagnóstico se hace mediante ultrasonografía fetal en el primer trimestre de la gestación; en casos incompletos la tomografía helicoidal y la resonancia magnética complementan el diagnóstico. El tratamiento es quirúrgico y en varias etapas, lo primordial es proteger las vísceras expuestas y corregir la cardiopatía congénita. Los resultados aún son controversiales. El pronóstico de la enfermedad depende de la extensión del defecto, el diagnóstico temprano y el manejo perioperatorio. Nosotros consideramos que la pentalogía de Cantrell es una enfermedad compleja en la que es necesaria la intervención multidisciplinaria del equipo de salud para llegar al diagnóstico preciso y decidir el mejor tratamiento.

The pentalogy of Cantrell is a rare disease, with uniqueclinical, anatomical and embryological characteristics. This disease is a thoraco-abdominal variety of ectopia cordis. Five anomalies are associated: epigastric defect of theover umbilical abdominal mean line, defect of inferiorbreastbone third, defect of the anterior segment of the diaphragm, pericardial defects and congenital cardiac malformations. Ventricular septal defect and atrial septal defects are in half of the cases and it could be associatedto other extra cardiac anomalies as bifid spine, several malformations of central nervous system, meckeldiverticulum and polispleenia, among others. The diagnosis is made by fetal ultrasonography in the first trimesterof pregnancy. In incomplete cases, helical tomography and magnetic resonance imaging complete the diagnosis.The treatment is surgical and is carried out in severalstages. It is fundamental to protect the exposed viscera and to correct the congenital heart disease. The results still are controversial. The prognosis of the disease depends on the defect extension, time of diagnosis and peri-operative handling. We considered that the pentalogyof Cantrell is a complex pathology. A multidisciplinary health team intervention is necessary to reacha precise diagnosis and to decide the best treatment.