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.

Prenatal diagnosis of fetal ectopia cordis by fetal cardiovascular magnetic resonance imaging.

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.

The Fetus with Ectopia Cordis: Experience and Expectations from Two Centers.

Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Clinical, echocardiographic features and perinatal outcomes of fetuses with EC managed at two large cardiac centers from 1995 to 2014 were retrospectively reviewed. Seventeen fetuses with EC were diagnosed at a median gestational age of 23 weeks (range 17-36). There were 6 thoracic EC and 11 thoracoabdominal. Fifteen had associated CHD: 10 conotruncal defects, 2 tricuspid atresia, 1 aortic stenosis, 1 atrial septal defect, and 1 atrioventricular septal defect. There were 2 terminations of pregnancy, 2 fetal deaths, 2 lost to follow-up, and 11 live born. Mean gestational age at birth was 36.4 weeks (range 26-39). Three patients died shortly after birth with comfort care, and 8 were actively managed. Six patients underwent postnatal cardiac intervention and are currently alive with a mean follow-up of 7.3 years (range 1.4-11.4), 2 of them with chronic dependency on ventilatory support. Two patients without CHD died after attempted chest closure. When diagnosed in utero, a high proportion of pregnancy termination or fetal demise is expected. In our cohort, conotruncal anomalies were the most common associated CHD. Though mortality in actively managed patients was not as high as previously reported, and cardiac surgical intervention may be achieved, EC is still associated with high mortality and significant long-term morbidity.

Ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia.

Ectopia cordis, defined as partial or complete displacement of the heart outside of the thoracic cavity, is a rare congenital malformation. If not surgically corrected during the early years of life, ectopia cordis can prove to be a fatal abnormality. However, due to the presence of multiple intracardiac and extracardiac malformations, a corrective surgery might not always be successful. The pathology of ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia is discussed, highlighting the complexities involved in such a rare disorder.

[Ectopia cordis - case report]. / Ektopie srdce - kazuistika.

OBJECT: Case report of ectopia cordis in a fetus at 23 weeks gestation. DESIGN: Case repor. SETTING: Obstetrics and Gynecology Clinic, University of Ostrava and University Hospital in Ostrava. METHODS AND RESULTS: We report a case of pentalogy of Cantrell variant in a 23-week fetus with an ultrasound finding of ectopia cordis, associated intracardial defects and omphalocele containing liver and guts. The patient opted for termination of pregnancy by using prostaglandins. Autopsy of the fetus revealed a cleft sternum and thoracic wall defect with nude ectopic heart-thoracic type and omphalocele containing liver and guts. Detailed examination of the heart revealed a double outlet right ventricle with a complete atrioventricular septal defect. Our study describes typical ultrasound findings in a correlation with autopsy findings. CONCLUSION: Ectopia cordis is a rare congenital malformation with an estimated incidence of 1:100 000 live births in developed countries. It is characterized by abnormal heart placement outside the thorax, mostly on the thoracoabdominal side. This form is often associated with pentalogy of Cantrell.

Early prenatal disruption; a foetus with features of severe limb body wall sequence, body stalk anomaly and amniotic bands.

Disruption in early pregnancy can cause severe and multiple congenital anomalies in a foetus. Three sequences, Limb-body wall complex (LBWC), amniotic band sequence (ABS) and body-stalk anomaly (BSA) are thought to be caused by disruption. This case report describes a foetus with severe multiple congenital anomalies, that fit the diagnoses of all three sequences, which might advocate these syndromes are a spectrum of one sequence.

Ectopia cordis in a first-trimester sonographic screening program for aneuploidy.

We review the sonographic features, antenatal course, and perinatal outcomes in 7 cases of ectopia cordis diagnosed in the first trimester. Four cases were associated with a large omphalocele (pentalogy of Cantrell) and 2 with a body stalk anomaly. The remaining fetus had isolated thoracic ectopia cordis. Two pregnancies were terminated; 2 fetuses died in utero; 2 infants died after delivery; and 1 died at 3 months of age. We conclude that the diagnosis of ectopia cordis can easily be established during the first trimester. In agreement with the currently available literature, the prognosis of ectopia cordis in our series was uniformly poor.

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.

Evaluation of clinical features and outcome of eight fetuses with ectopia cordis; A study from a fetal cardiology center.

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.

First trimester sonographic diagnosis of limb-body wall defect associating both cephalic and thoraco-abdominal defects - a case report and literature update.

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.

Prenatal diagnosis of a rare isolated thoracic-type ectopia cordis with complete form: a case report.

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.

A Baby Born with Ectopia Cordis, Omphalocele, Cleft Lips and Palate: A Case Report.

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.

Ectopia Cordis Sternal Cleft Repair With Mandibular Distractors: A Follow-Up Case Report.

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.

Ectopia cordis with tetralogy of Fallot in an infant with pentalogy of Cantrell: high-pitch MDCT exam.

We report the MDCT findings of a 17-month-old girl with Cantrell's pentalogy, a rare congenital disease characterized by several defects in the ventral thoracoabdominal wall including ectopia cordis, and, in this patient, associated with tetralogy of Fallot. This case provides an example of the utility of a wide volume in coverage and high-pitch MDCT scan in the evaluation of complex cardiovascular anatomy in infants with congenital heart disease without the need of an ECG-gating acquisition.

Prenatally evolving ectopia cordis with successful surgical treatment.

Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fallot. EC and additional anomalies usually lead to intrauterine death. The possibility and efficacy of surgery in a surviving neonate depends on the degree of EC, coexisting congenital heart defects and extracardiac malformations. We present a case of prenatally diagnosed isolated EC diagnosed in the first half of pregnancy. After counseling, the patient decided to continue her pregnancy which ended with a newborn baby discharged from the hospital after cardiac surgery performed just after elective cesarean section.

Ectopia cordis in a fetus with mosaic trisomy 16.

Ectopia cordis and mosaic trisomy 16 are two rare fetal anomalies, which have not been reported in association. We report a case of an isolated ectopia cordis at 11(+3) weeks. Subsequent embryological examination confirmed thoracic ectopia cordis with normal heart structure and array comparative genomic hybridization of fetal tissue detected trisomy 16 mosaicism.

Complete ectopia cordis with anencephaly: a case report.

We report a case of pentalogy of Cantrell with anencephaly diagnosed in utero on 2-dimensional sonography at 17 weeks of gestation. Due to associated anencephaly, termination of pregnancy was carried out. Histopathological examination confirmed the sonographic findings.

First trimester diagnosis of body stalk anomaly complicated by ectopia cordis.

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.