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1.
Eur J Cardiothorac Surg ; 66(1)2024 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-38885369

RESUMO

Ectopia cordis is an extremely rare condition where the heart displaces outside the thoracic cavity. Treating this, especially when accompanied by congenital heart diseases and severe protrusion, is challenging. Here, we present a case of successful treatment involving intracardiac repair and delayed sternal closure using local skin flaps.


Assuntos
Ectopia Cordis , Retalhos Cirúrgicos , Humanos , Ectopia Cordis/cirurgia , Feminino , Masculino , Prolapso , Procedimentos Cirúrgicos Cardíacos/métodos
2.
Rev. chil. obstet. ginecol. (En línea) ; 88(4): 248-254, ago. 2023. ilus
Artigo em Espanhol | LILACS | ID: biblio-1515216

RESUMO

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.


Assuntos
Humanos , Feminino , Gravidez , Adulto Jovem , Pentalogia de Cantrell/diagnóstico por imagem , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal , Aborto Induzido , Ectopia Cordis/etiologia , Pentalogia de Cantrell/cirurgia , Pentalogia de Cantrell/complicações
4.
J Matern Fetal Neonatal Med ; 36(1): 2203791, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-37080921

RESUMO

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.


Assuntos
Ectopia Cordis , Cardiopatias Congênitas , Comunicação Interventricular , Lactente , Humanos , Gravidez , Feminino , Adolescente , Ectopia Cordis/diagnóstico por imagem , Estudos Retrospectivos , Seguimentos , Ultrassonografia Pré-Natal , Diagnóstico Pré-Natal , Cardiopatias Congênitas/diagnóstico
5.
Iran J Med Sci ; 48(2): 214-218, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36895461

RESUMO

Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 (RFX6) heterozygous missense mutation in whole-exome sequencing.


Assuntos
Divertículo , Ectopia Cordis , Cardiopatias Congênitas , Pentalogia de Cantrell , Recém-Nascido , Humanos , Ectopia Cordis/cirurgia , Pentalogia de Cantrell/cirurgia , Ventrículos do Coração , Mutação , Divertículo/cirurgia
6.
Congenit Anom (Kyoto) ; 63(3): 66-73, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36680738

RESUMO

We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study, we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell. Five multiple pregnancies were found, four were twin pregnancies (three dichorionic diamniotic, one monochorionic monoamniotic) and one was triplet (trichorionic triamniotic). In the monochorionic monoamniotic twin pregnancy, both fetuses have pentalogy of Cantrell. Two cases had intracardiac structural defects including Tetralogy of Fallot and hypoplastic right heart syndrome. Three pregnancies were terminated, four cases delivered alive could not survive beyond the neonatal period. The striking feature in our study is its association with multiple pregnancies.


Assuntos
Ectopia Cordis , Doenças Fetais , Humanos , Feminino , Gravidez , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/patologia , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/patologia , Idade Gestacional , Diagnóstico Pré-Natal , Adulto , Estudos Retrospectivos , Resultado da Gravidez , Recém-Nascido , Pentalogia de Cantrell/diagnóstico por imagem , Pentalogia de Cantrell/patologia
7.
Pediatr Radiol ; 53(5): 1019-1026, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36585499

RESUMO

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.


Assuntos
Ectopia Cordis , Cardiopatias Congênitas , Recém-Nascido , Humanos , Criança , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Angiografia por Tomografia Computadorizada , Angiografia , Tomografia Computadorizada por Raios X , Cardiopatias Congênitas/cirurgia
8.
Prenat Diagn ; 42(13): 1636-1642, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36307940

RESUMO

OBJECTIVE: The purpose of this retrospective study was to report our cases of fetal ectopia cordis (EC) and to evaluate the utility of fetal cardiovascular magnetic resonance imaging (MRI) for the diagnosis of this rare anomaly. METHOD: This retrospective study included 11 fetuses with EC. The multiplane steady-state free precession (SSFP) sequence, single-shot turbo spin-echo sequence and non-gated SSFP cine cardiovascular magnetic resonance were used to evaluate the fetal heart and abdomen. RESULTS: The 11 fetal cases with EC were examined by fetal cardiovascular MRI and confirmed by postnatal or post-mortem findings. Of these 11 cases, two were isolated thoracic EC, six had pentalogy of Cantrell, and three had an omphalocele and EC. Among all 11 fetuses, nine were associated with congenital heart defects. In four cases, fetal MRI added additional information compared to fetal ultrasound, however, in two cases, fetal MRI missed the diagnosis of a ventricular septal defect noted by echocardiography. CONCLUSION: Fetal MRI combined with prenatal echocardiography can improve the accuracy of the prenatal diagnosis of EC.


Assuntos
Ectopia Cordis , Cardiopatias Congênitas , Gravidez , Feminino , Humanos , Ectopia Cordis/diagnóstico por imagem , Estudos Retrospectivos , Diagnóstico Pré-Natal/métodos , Coração Fetal/diagnóstico por imagem , Ultrassonografia Pré-Natal/métodos , Cardiopatias Congênitas/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos
9.
JNMA J Nepal Med Assoc ; 60(246): 183-186, 2022 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-35210636

RESUMO

Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn't give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.


Assuntos
Fenda Labial , Fissura Palatina , Ectopia Cordis , Hérnia Umbilical , Fenda Labial/complicações , Fenda Labial/diagnóstico por imagem , Fissura Palatina/complicações , Fissura Palatina/diagnóstico por imagem , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Feminino , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/diagnóstico por imagem , Humanos , Lactente , Recém-Nascido , Palato , Gravidez , Ultrassonografia Pré-Natal
10.
J Ultrasound ; 25(2): 305-308, 2022 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32613378

RESUMO

Ectopia cordis (EC) is a rare malformation that occurs as an isolated lesion or as part of the pentalogy of Cantrell which is characterized by midline closure defects. This was first described by Haller et al. in 1706. EC is seen with a frequency of 5.5-7.9 per 1 million births. It has five types that are: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal. Its differentiation from the pentalogy of Cantrell, first described by Cantrell in 1958, must be done well. Thoracic type has the worst prognosis and due to this poor prognosis in the postnatal period, termination may be offered to these patients as an option. In this paper, a case of an isolated thoracic-type complete EC detected in the prenatal ultrasonography of a pregnant woman referred to our clinic at the 18 weeks and 3 days of gestation is presented.


Assuntos
Ectopia Cordis , Pentalogia de Cantrell , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Feminino , Humanos , Pentalogia de Cantrell/diagnóstico por imagem , Pentalogia de Cantrell/cirurgia , Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
11.
World J Pediatr Congenit Heart Surg ; 13(1): 94-96, 2022 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33956542

RESUMO

A neonate with thoracic ectopia cordis presented following an uncomplicated delivery. A mandibular distractor was placed to bridge the sternal cleft and retracted (reverse distractor activation) over 24 days to facilitate sternal closure. Follow-up at five years postoperatively demonstrated a well-healed sternum. This novel approach to ectopia cordis repair facilitates slow, steady physiologic accommodation of the heart without hemodynamic instability or long-term complications.


Assuntos
Ectopia Cordis , Cardiopatias Congênitas , Anormalidades Musculoesqueléticas , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Seguimentos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/cirurgia , Humanos , Recém-Nascido , Esterno/anormalidades , Esterno/diagnóstico por imagem , Esterno/cirurgia
12.
Med Ultrason ; 24(2): 245-247, 2022 May 25.
Artigo em Inglês | MEDLINE | ID: mdl-34113935

RESUMO

We present the first trimester prenatal ultrasonography and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) presenting both exenchephaly and a complex thoraco-abdominal wall defect. Ectopia cordis is demonstrated with a movie showing the heart beating outside the body of the fetus after its expulsion. Also, we discuss the pathogenesis and possible etiology of LBWC and associated malformations and we provide an update of the literature of this very rare anomaly.


Assuntos
Anormalidades Múltiplas , Ectopia Cordis , Deformidades Congênitas dos Membros , Anormalidades Múltiplas/diagnóstico por imagem , Ectopia Cordis/complicações , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/patologia , Feminino , Humanos , Deformidades Congênitas dos Membros/etiologia , Gravidez , Primeiro Trimestre da Gravidez , Ultrassonografia Pré-Natal
13.
Pan Afr Med J ; 39: 233, 2021.
Artigo em Francês | MEDLINE | ID: mdl-34659606

RESUMO

Sternal agenesis as well as ectopia cordis are extremely rare congenital malformations. We here report a single case treated in the Department of Paediatric Surgery in Benin. The study involved a 3-year-old girl with congenital sternal agenesis associated with ectopia cordis; firstly, she underwent controlled healing. Then thoracoplasty was performed with favourable outcome. Long-term results are good. Now, she is 13 years old, is attending school and has a satisfactory clinical condition. This is one of the few cases reported in the literature. Optimal therapeutic management has been keeping the patient alive in West Africa.


Assuntos
Ectopia Cordis/cirurgia , Esterno/cirurgia , Benin , Pré-Escolar , Feminino , Seguimentos , Humanos , Esterno/anormalidades , Resultado do Tratamento
16.
Fetal Pediatr Pathol ; 40(5): 540-542, 2021 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31914845

RESUMO

BACKGROUND: Ectopia cordis is a complete or partial extrusion of the heart through a ventral defect in the thoracoabdominal wall, either isolated or accompanied by other viscera in instances of pentalogy of Cantrell. Case Report: This six-year-old child has survived with uncorrected ectopia cordis. He is unable to participate in strenuous physical activities and has respiratory limitations. Conclusion: Ectopia cordis most commonly results in stillbirth or neonatal death without surgical treatment. This report highlights the exceptional 6-year survival of a child without surgical correction.


Assuntos
Ectopia Cordis , Cardiopatias Congênitas , Criança , Ectopia Cordis/cirurgia , Humanos , Masculino
17.
J Int Med Res ; 48(12): 300060520980210, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33322994

RESUMO

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks' gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.


Assuntos
Ectopia Cordis , Adulto , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/cirurgia , Feminino , Idade Gestacional , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal , Ultrassonografia Pré-Natal
18.
Cardiol Young ; 30(12): 1951-1953, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33040739

RESUMO

We present a 31 gestational weeks' premature baby whose fetal echocardiogram showed ectopia cordis, single ventricle and severe pulmonary stenosis. At 31 gestational weeks, an emergency caesarean section was performed, and his birth weight was 1756 g, SpO2 was 80% on 100% O2. Epicardial echocardiogram showed double inlet right ventricle, severe valvular pulmonary stenosis and no ductus arteriosus. The risk of surgery was very high, so we decided to perform balloon valvuloplasty by direct puncture of the heart. We punctured the apex of the ventricle using a 16-gauge needle under echo guidance, advanced the guidewire to the pulmonary artery and performed balloon valvuloplasty. Soon after the procedure, the cyanosis improved dramatically. This is the first report of a transcatheter procedure performed by direct puncture of the heart for ectopia cordis with complex congenital heart disease.


Assuntos
Valvuloplastia com Balão , Ectopia Cordis , Pentalogia de Cantrell , Estenose da Valva Pulmonar , Cesárea , Ectopia Cordis/diagnóstico , Ectopia Cordis/cirurgia , Feminino , Humanos , Lactente , Recém-Nascido de Baixo Peso , Recém-Nascido , Pentalogia de Cantrell/diagnóstico , Pentalogia de Cantrell/cirurgia , Gravidez , Estenose da Valva Pulmonar/diagnóstico , Estenose da Valva Pulmonar/cirurgia , Punções
20.
Fetal Pediatr Pathol ; 39(1): 78-84, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31215820

RESUMO

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.


Assuntos
Ectopia Cordis/patologia , Pentalogia de Cantrell/patologia , Síndrome da Trissomía do Cromossomo 18/patologia , Adulto , Feminino , Idade Gestacional , Hérnia Umbilical/patologia , Humanos , Pentalogia de Cantrell/diagnóstico , Gravidez , Primeiro Trimestre da Gravidez/metabolismo , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Ultrassonografia Pré-Natal/métodos
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