Thoracic ectopia cordis: A case report.

Ectopia cordis is a congenital heart malformation of the sternal wall, with a prevalence of 0.1% among heart conditions and an incidence of 5.5 to 7.9 per million births. It is characterized by the heart being located outside the thoracic cavity, and it may be accompanied by other congenital anomalies such as omphalocele, Cantrell´s pentalogy, or Fallot´s tetralogy. We present a case of thoracic ectopia cordis in a male neonate. After birth, we also observed a midline thoracic malformation and respiratory difficulties with clinical and paraclinical features consistent with tetralogy of Fallot. It was decided to provide skin flap coverage, and due to the poor prognosis of the heart condition, palliative care was chosen. Unfortunately, the neonate passed away after seven days. This clinical case study contributes to understanding this rare condition and may help improve diagnosis and treatment of affected patients.

La ectopia cordis es una malformación cardíaca congénita de la pared esternal, con una prevalencia del 0,1%, e incidencia del 5,5 al 7,9 por millón de nacimientos. Se caracteriza por situar al corazón fuera de la cavidad torácica, puede acompañarse de otras anomalías congénitas como onfalocele, pentalogía de Cantrell o tetralogía de Fallot. Presentamos un caso de ectopia cordis torácica en un recién nacido de sexo masculino. Después del nacimiento, también observamos una malformación de la línea media torácica y dificultad respiratoria con características clínicas y paraclínicas compatibles con tetralogía de Fallot. Se realizó una cobertura con colgajo cutáneo, y debido al mal pronóstico, se optó por cuidados paliativos; con fallecimiento después de siete días. Este estudio de caso clínico contribuye a la comprensión de esta rara enfermedad, y puede ayudar a mejorar el diagnóstico y tratamiento de los pacientes afectados.

Thoracic ectopia cordis: A case report / Ectopia cordis: reporte de un caso

Ectopia cordis is a congenital heart malformation of the sternal wall, with a prevalence of 0.1% among heart conditions and an incidence of 5.5 to 7.9 per million births. It is characterized by the heart being located outside the thoracic cavity, and it may be accompanied by other congenital anomalies such as omphalocele, Cantrell´s pentalogy, or Fallot´s tetralogy. We present a case of thoracic ectopia cordis in a male neonate. After birth, we also observed a midline thoracic malformation and respiratory difficulties with clinical and paraclinical features consistent with tetralogy of Fallot. It was decided to provide skin flap coverage, and due to the poor prognosis of the heart condition, palliative care was chosen. Unfortunately, the neonate passed away after seven days. This clinical case study contributes to understanding this rare condition and may help improve diagnosis and treatment of affected patients.

La ectopia cordis es una malformación cardíaca congénita de la pared esternal, con una prevalencia del 0,1%, e incidencia del 5,5 al 7,9 por millón de nacimientos. Se caracteriza por situar al corazón fuera de la cavidad torácica, puede acompañarse de otras anomalías congénitas como onfalocele, pentalogía de Cantrell o tetralogía de Fallot. Presentamos un caso de ectopia cordis torácica en un recién nacido de sexo masculino. Después del nacimiento, también observamos una malformación de la línea media torácica y dificultad respiratoria con características clínicas y paraclínicas compatibles con tetralogía de Fallot. Se realizó una cobertura con colgajo cutáneo, y debido al mal pronóstico, se optó por cuidados paliativos; con fallecimiento después de siete días. Este estudio de caso clínico contribuye a la comprensión de esta rara enfermedad, y puede ayudar a mejorar el diagnóstico y tratamiento de los pacientes afectados.

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.

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.

Computed tomography angiography features of children with ectopia cordis.

Ectopia cordis is a rare congenital defect with high mortality, and it remains challenging to radiologists, neonatologists and surgeons. CT angiography provides key information that aids in the decision-making process for possible surgical intervention. This pictorial essay describes CT angiography features in six neonates with ectopia cordis.

Ectopia cordis abdominal. Apropósito de un caso

Resumen Introducción: La ectopia cordis es una malformación congénita poco frecuente y grave caracterizada por el desplazamiento del corazón fuera de la cavidad torácica, Existe discreto predominio en el sexo femenino y se asocia a teratógenos no potentes y relacionado también a factores genéticos, su diagnóstico prenatal es muy importante y su pronostico es desfavorable en casi la totalidad de los casos. Objetivo: Describir el manejo con una paciente con ectopia cordis en Letsholathebe Memorial Hospital II Republica de Botswana. Descripción: Se describe el manejo por parte del pediatra y el cardiólogo desde su diagnóstico desde su nacimiento hasta sus ingresos hospitalarios. Conclusiones: Ectopia cordis es una malformación congénita rara que tiene un mal pronóstico incluso después del enfoque quirúrgico y su gravedad está relacionada con la presencia de otras anomalías.

ABSTRACT Introduction: Ectopia cordis is a rare and severe congenital malformation characterized by the displacement of the heart outside the chest cavity, there is discreet predominance in the female sex and is associated with non-potent teratogens and also related to genetic factors, its prenatal diagnosis is very important and its prognostic is unfavorable in almost all cases. Objective Describe management with a patient with ectopia cordis at Letsholathebe Memorial Hospital II Republic of Botswana. Description: It describes the management by the pediatrician and the cardiologist from his diagnosis from birth to his hospital admissions. Conclusions: Ectopia Cordis is a rare congenital malformation that has a poor prognosis even after the surgical approach and its severity is related to the presence of other abnormalities.

New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology / Nuevas pistas para comprender la gastrosquisis. Embriología, patogénesis y epidemiología

Abstract gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. . We have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines

Resumen La gastrosquisis es un defecto estructural congénito de la pared abdominal, localizado con mayor frecuencia a la derecha del ombligo, a través del cual sobresalen las vísceras abdominales. Durante mucho tiempo, sus aspectos evolutivos, etiológicos y epidemiológicos han sido un tema candente de controversia, aunque hallazgos recientes sugieren la participación de alteraciones genéticas, cromosómicas, y la existencia de una vía patogénica inductora de estrés, en la que factores de riesgo como los demográficos y ambientales pueden converger. Con el objetivo de ampliar la frontera del conocimiento sobre una malformación que ha mostrado una creciente prevalencia global, hemos efectuado una revisión que incluye información, del desarrollo embrionario de la pared corporal ventral, el intestino primitivo, el complejo anillo-cordón umbilical, y de las teorías acerca de su origen, patogénesis e información epidemiológica reciente.

[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.

New clues to understand gastroschisis. Embryology, pathogenesis and epidemiology.

gastroschisis is a congenital structural defect of the abdominal wall, most often to the right of the umbilicus, through which the abdominal viscera protrude. Its developmental, etiological and epidemiological aspects have been a hot topic of controversy for a long time. However, recent findings suggest the involving of genetic and chromosomal alterations and the existence of a stress-inducing pathogenetic pathway, in which risk factors such as demographic and environmental ones can converge. To expand the frontier of knowledge about a malformation that has showed a growing global prevalence, we have conducted a review of the medical literature that gathers information on the embryonic development of the ventral body wall, the primitive intestine, and the ring-umbilical cord complex, as well as on the theories about its origin, pathogenesis and recent epidemiological evidence, for which we consulted bibliographic databases and standard search engines.

La gastrosquisis es un defecto estructural congénito de la pared abdominal, localizado con mayor frecuencia a la derecha del ombligo, a través del cual sobresalen las vísceras abdominales. Durante mucho tiempo, sus aspectos evolutivos, etiológicos y epidemiológicos han sido un tema candente de controversia, aunque hallazgos recientes sugieren la participación de alteraciones genéticas, cromosómicas, y la existencia de una vía patogénica inductora de estrés, en la que factores de riesgo como los demográficos y ambientales pueden converger.Con el objetivo de ampliar la frontera del conocimiento sobre una malformación que ha mostrado una creciente prevalencia global, hemos efectuado una revisión que incluye información, del desarrollo embrionario de la pared corporal ventral, el intestino primitivo, el complejo anillo-cordón umbilical, y de las teorías acerca de su origen, patogénesis e información epidemiológica reciente.

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.

Trisomy 18 in a First-Trimester Fetus with Thoraco-Abdominal Ectopia Cordis.

Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.

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.

Reporte de caso: ectopia cordis / Case report: ectopia cordis

Ectopia cordis es el desplazamiento completo o parcial del corazón fuera de la cavidad torácica, producido por un defecto congénito en la fusión de la pared torácica anterior dando como resultado una ubicación torácica adicional del corazón. Su prevalencia estimada es de 5.5-7.9 por millón de nacidos vivos. Se presenta el caso de un recién nacido varón de 15 h de edad, que pesaba 2.25 Kg, con ectopia cordis, con signos de dificultad respiratoria y cianosis periférica. El paciente fallece antes de que cualquier intervención quirúrgica se pudiera llevar a cabo

Ectopia cordis is the complete or partial displacement of the heart outside the thoracic cavity, produced by a congenital defect in the fusion of the anterior chest wall resulting in an additional thoracic location of the heart. Its estimated prevalence is 5.5-7.9 per million live births. We present the case of a 15-h-old male newborn, weighing 2.25 kg, with ectopia cordis, with signs of respiratory distress and peripheral cyanosis. The patient dies before any surgical intervention can be carried out

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. 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.

Ectopia cordis: a case report / Ectopia cordis: caso clínico

Ectopia cordis is a rare congenital malformation, with an estimated incidence of 5 to 8 per million live births. It is defined as a malformation in which the heart is located in an extra-thoracic position. Ectopia cordis may occur as an isolated malformation or associated with other anomalies such as omphalocele, congenital heart disease or integrating Cantrell syndrome. The size and location of the defect influence the prognosis. Description: we report a case of a 24-year-old nulliparous woman, with no relevant family or personal history, in which the prenatal fetal ultrasound, performed at 21 weeks of gestation, revealed adefect of the anterior chest wall with exteriorization of the heart. Discussion: fetal echocardiography revealed a severe congenital heart disease. The parents decided to continue the pregnancy, after being duly informed by a multidisciplinary team. Delivery occurred at 37 weeks of gestation but the female newborn died one hour afterwards. Pathological examination confirmed the sonographic findings...

A ectopia cordis é uma malformação congênita rara, com uma incidência estimada de 5 a 8 por milhão de nados vivos. Define-se como uma malformação em que o coração se localiza numa posição extratorácica. Pode surgir como malformação isolada ou associada a outras anomalias como onfalocelo, doença cardíaca congênita ou integrando o síndrome de Cantrell. A dimensão e o local do defeito influenciam o prognóstico. Descrição: descreve-se um caso de uma mulher de 24 anos, nulípara, sem antecedentes pessoais oufamiliares relevantes, em que a ultrassonografiaobstétrica, realizada às 21 semanas, revelou um defeito da parede torácica anterior com exteriorização do coração. Discussão: o ecocardiograma fetal revelou uma cardiopatia congênita grave. Os pais decidiram continuar com a gravidez, após de devidamente informados por uma equipe multidisciplinar. O partoocorreu às 37 semanas, tendo o recém-nascido falecido cerca de 1 hora após o mesmo. O estudo anatomopatológico confirmou os achados ultrassonográficos...

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(AU)

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(AU)

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