Pentalogía de Cantrell diagnosticada en el primer trimestre: reporte de caso / Cantrell's pentalogy diagnosed in the first trimester: case report

La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.

Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.

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.

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.

Imaging of Thoracic Wall Abnormalities

Identification of certain abnormalities of the chest wall can be extremely helpful in correctly diagnosing a number of syndromic conditions and systemic diseases. Additionally, chest wall abnormalities may sometimes constitute diagnoses by themselves. In the present pictorial essay, we review a number of such conditions and provide illustrative cases that were retrospectively identified from our clinical imaging database. These include pentalogy of Cantrell, Klippel-Feil syndrome, cleidocranial dysplasia, Poland syndrome, osteopetrosis, neurofibromatosis type 1, Marfan syndrome, Gardner syndrome, systemic sclerosis, relapsing polychondritis, polymyositis/dermatomyositis, ankylosing spondylitis, hyperparathyroidism, rickets, sickle cell anemia, thalassemia, tuberculosis, septic arthritis of the sternoclavicular joint, elastofibroma dorsi, and sternal dehiscence.

Pentalogía de cantrell incompleta / Cantrell pentalogy incomplete

La Pentalogía de Cantrell es una rara y a menudo fatal anomalía congénita de 5 estructuras asociadas: pared abdominal, esternón, diafragma, pericardio y corazón. La etiología exacta aún es desconocida, pero el síndrome es considerado de causas heterogéneas. Reportamos el caso de un feto femenina con una Pentalogía de Cantrell incompleta ((clase II) que presentó: ectopía cordis, fisura esternal y onfalocele.

Pentallogy of Cantrell is a rare and often fatal congenital abnormality of 5 associated structures: the abdominal wall sternum, diaphragm, pericardiun and heart. The exact acuse remains still unknown, but the syndrome is considered to be of heteterogeneus origin. We report a case of a female fetus with a incomplete(class ll) Pentalogia odf Cantrell presenting ectopia condis, sternal cleft and omphalocele.

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

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

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

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.

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.

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: presentación de caso clínico / Pentalogy of Cantrell. Clinical case

La pentalogía de Cantrell es un síndrome congénito raro que incluye: a) defecto en la pared abdominal ventral (frecuentemente onfalocele); b) ectopia cordis;c) anomalías cardíacas comunicación interauricular (CIA), comunicación interventricular(CIV), tetralogía de Fallot, estenosis pulmonar, divertículo ventricular y/o anomalía del retorno venoso); d) defecto del aporción inferior del esternón y e) defecto del diafragma anterior. La probabilidad de sobrevida está relacionada al grado de afección cardíaca. Se presenta el caso de un recién nacido masculino, hijo de madre de 23 años, primigesta, 35.5 semanas de gestación, sin antecedentes de uso de misoprostol, el nacimiento fue vía vaginal en el Hospital Mario Catarino Rivas de San Pedro Sula, Honduras, con APGAR 7 y 8 al primer y quinto minuto respectivamente. Al examen físico presentaba onfalocele, fue ingresado al área de cuidados intermedios de sala cuna, presentó falla respiratoria desde el primer día de vida, se realizó intubación con tubo endotraqueal número 3.5, trasladándose a la unidad de cuidados intensivos neonatales (UCIN) y se acopló a ventilador mecánico, posteriormente se interconsultó con el cirujano pediatra quien observó: hígado y bazo dentro del defecto abdominal, ectopiacordis, defecto de la porción baja esternal y defecto diafragmático inferior, diagnosticando clínicamente la pentalogía de Cantrell. Al tercer día de vida fue trasladado al hospital del Instituto Hondureño del Seguro Social en San Pedro Sula; continúo su atención en UCIN, fue presentado al cardiólogo pediatra quien realizó ecocardiograma en contrando: tronco arterioso común, obstrucción pulmonar, CIA, CIV grande y persistencia...

Use of prosthetic materials in cardiac surgery with special reference to pentalogy of cantrell.

Use of prosthetic materials has not only helped but revolutionalised surgery especially cardiac surgery. Various types of patches are now available to match the needs of the various types of cardiac surgery performed today. Use of prosthetic patches has not only met the demand of day to day cardiac surgeries like ASD, VSD but also helped in repair and better survival of complicated surgeries like repair of Pentalogy of Cantrell

Clinic diagnosis and treatment of patients with Cantrell syndrome / 中华心血管病杂志

<p><b>OBJECTIVE</b>To analyze the diagnostic feature, treatment and prognosis of patients with Cantrell syndrome.</p><p><b>METHODS</b>Clinical manifestation, diagnosis, operation and follow-up data of 5 patients with Cantrell syndrome were summarized in this retrospective analysis.</p><p><b>RESULTS</b>The age of the 5 patients was 7 days-76 years, definite diagnosis was made in 3 cases and 2 cases presented feature of incomplete Cantrell syndrome. Three patients with full Cantrell syndrome were correctly diagnosed before operation and confirmed by operation. One patient with incomplete Cantrell syndrome (two-vessel stenosis) received bypass surgery. Another asymptomatic patient with incomplete Cantrell syndrome (apical diverticulum of the left ventricle) does not need operation and is under observation. During follow-up, 1 patient died at 60 months after operation and the remaining 4 patients are alive and well.</p><p><b>CONCLUSIONS</b>With the development of modern imaging technology, it becomes easy to make correct diagnose Cantrell syndrome before operation. Prognosis is fine post timely operation and related intervention.</p>

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.

One-Stage Operation for Cantrell's Pentalogy

Cantrell's pentalogy may be defined as a failure of fusion of the midline from the sternum to the umbilicus. Thus, this malady consists of multiple anomalies of the sternum, heart, pericardium, diaphragm and umbilicus or anterior abdominal wall. According to the degrees of each anomaly, various operations can be planned as a one-stage operation or as a multi-stage operation and then palliative or corrective operations. The authors experienced a case of Cantrell's pentalogy that consisted of a bifid sternum, ventricular septal defect, atrial septal defect, ventricular diverticulum, dextrocardia, pericardial defect, anterior diaphragmatic defect and diastasis recti; all of these problems were corrected by a one-stage operation.

A Case of Cantrell's Pentalogy with Anencephaly Diagnosed by Prenatal Ultrasonography / 대한산부인과학회잡지

Pentalogy of Cantrell was very rare congenital anomaly and represent a regional prevalence of 5.5/1 million live births. The syndrome, Cantrell's pentalogy is characterized by defects in the lower sternum with ectopia cordis, anterior diaphragm defects, midline supraumbilical abdominal wall defects, defects in the diaphragmatic pericardium, and various intracardiac defects. Anencephaly involves acrania with a degenerated mass of brain tissue. Combination of both conditions are extremely rare. We experienced a case of Cantrell's pentalogy with anencephaly detected by ultrasonography at 15 weeks 1 day menstural age and confirmed at autopsy. Thus we report a case with brief review of the literature.