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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.

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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.

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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.

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OBJECTIVES: To utilize a large multicenter neonatal cohort to describe survival and clinical outcomes of very low birth weight (VLBW) or preterm infants with ectopia cordis. STUDY DESIGN: Data were prospectively collected on 2 211 262 infants (born 2000-2017) from 845 US centers. Both VLBW (401-1500 g or 22-29 weeks of gestation) and non-VLBW (>1500 g and >29 weeks) infants had diagnoses or anatomic descriptors consistent with ectopia cordis and/or pentalogy of Cantrell. The primary outcome was neonatal survival, defined as hospital discharge or initial length of stay of ≥12 months. RESULTS: In total, 180 infants had ectopia cordis, 135 (76%) with findings of pentalogy of Cantrell. VLBW infants comprised 52% of the population. VLBW mortality was 96% with 79% dying within 12 hours, compared with 59% and 36%, respectively, for non-VLBW. One-third of VLBW infants received life support compared with 65% of non-VLBW. Surgery was reported for 34% of VLBW and 68% of non-VLBW infants. Congenital heart disease was reported in 8% of VLBW and 36% of non-VLBW, with conotruncal abnormalities most common. Survival exceeded 50% for infants >2500 g and >37 weeks of gestation. CONCLUSIONS: Survival of VLBW infants with ectopia cordis was poor and substantially worse compared with non-VLBW, with notable discrepancies in resuscitative efforts and surgical interventions. Although gestational age and weight strongly influence current survival, more detailed information regarding the severity of cardiac and noncardiac abnormalities is required to fully determine prognosis and inform counseling.

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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.

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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.

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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.

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.

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