Search

To evaluate the characteristics and outcomes of fetuses with atrial appendage aneurysm (AAA) diagnosed by fetal echocardiography. The fetal echocardiography records of 1956 fetuses were evaluated retrospectively. Nine pregnancies who had been diagnosed with fetal AAA prenatally and evaluated after delivery were enrolled in the study. Perinatal and obstetric outcomes were analyzed. The incidence of fetal AAA in our series was 0.46%. Seven fetuses (77.8%) had right AAA, 1 fetus had left AAA (11.1%) and 1 fetus (11.1%) had bilateral AAA. The average gestational age at the first observation and/or diagnosis and gestational age at delivery was 22.3 ± 1.9 weeks and 34.7 ± 4.9 weeks, respectively. Incidences of associated cardiac anomaly, pericardial effusion, and nonimmune hydrops fetalis (NIHF) were 44.4%, 22.2%, and 11.1%, respectively. There was no chromosomal abnormality detected in 4 pregnancies where karyotype analysis was performed. There were 2 neonatal (22.2%) and 1 fetal (11.1%) deaths in our study group. Detailed cardiac and structural ultrasonographic examination should be performed in pregnancies with fetal AAA. [ABSTRACT FROM AUTHOR]

We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome. [ABSTRACT FROM AUTHOR]

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.

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. [ABSTRACT FROM AUTHOR]

Herein we present the fatal case of premature baby with coincidence of extreme form of ectopia cordis and hypoplastic left heart structures. [ABSTRACT FROM AUTHOR]

Key Clinical Message Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia cordis. When the infant cried, the prolapse of the heart, liver, and intestinal tract worsened. A pressure‐applying protector was used to protect the organs and reduce the prolapse. Upon application, the infant's tachypnea and desaturation worsened. Fluoroscopic examination suggested that the pressure from the prolapsed regions was impeding pulmonary expansion and negatively affecting circulation. It is essential to carefully design a protector that accommodates the infant's growth.

We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.

Key Clinical Message: Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia cordis. When the infant cried, the prolapse of the heart, liver, and intestinal tract worsened. A pressure‐applying protector was used to protect the organs and reduce the prolapse. Upon application, the infant's tachypnea and desaturation worsened. Fluoroscopic examination suggested that the pressure from the prolapsed regions was impeding pulmonary expansion and negatively affecting circulation. It is essential to carefully design a protector that accommodates the infant's growth. [ABSTRACT FROM AUTHOR]

Simple Summary: Two papillon puppies (a stillborn and a live pup) were born with severe syndromic developmental abnormalities, involving incomplete fusion of the chest and abdominal wall with extrusion of internal organs. A similarly affected stillborn pup from the dam's previous litter was reported, suggesting a possible familial inheritance. This study describes the results of advanced imaging (by computed tomography) and postmortem examinations of the two affected puppies compared to an unaffected stillborn papillon puppy from a separate litter. The results confirmed a diagnosis of Pentalogy of Cantrell, a rare syndrome, which is proposed to be inherited in humans. There are infrequent reports of this congenital condition in domestic animals with variable expression of the typical five signs of this syndrome, without any identified cause or confirmed genetic familial basis. Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide an opportunity as a spontaneous animal model for human disease. Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. It is a ventral midline closure defect with a proposed familial inheritance in humans. This syndrome involves five defects, including the thoracoabdominal wall, sternal, diaphragmatic, pericardial and cardiac malformations. Diverse expressions of these defects have been described in humans and sporadically in domestic animals. This severe syndrome commonly harbors a poor prognosis, posing an ethical and surgical dilemma. To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. The diagnosis was confirmed by advanced imaging (computed tomography) and postmortem examinations. The family history of this litter was explored and other cases in domestic animals were reviewed. This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. Similar to human cases, possible familial inheritance and suspected male gender bias were observed. Further research on this novel animal model, its pathogenesis and its hereditary basis, may be helpful in better understanding this rare developmental disorder. [ABSTRACT FROM AUTHOR]

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.

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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Ectopic cordis is a rare anomaly with incidence of 5.5 to 7.9 per one million. In this anomaly, fetal heart is displayed towards outside of the thoracic cavity partially or completely. We describe a case of antenatal diagnosis of Thoracic Ectopia Cordis (EC) with CongenitalHeartDisease (CHD) without any other extracardiac malformations. The mother was referred to our center at 18 weeks of gestation due to abnormal sonography. Fetal Echocardiographic examination showed isolated thoracic ectopia cordis with Double Outlet Right Ventricle (DORV), large inlet to outlet Ventricular Septal Defect (VSD), malposition of Aorta, Pulmonary Atresia with retrograde flow, narrow Pulmonary Artery (PA) and PA branches. Amniocentesis and sonography revealed no other anomaly or chromosomal derangement. Because the diagnosis of Ectopia cordis may be difficult in the fetal period due to multiple factors, meticulous attention should be paid for true diagnosis.

Pentalogy of Cantrell is a rare syndrome of anomalous malformation. In the present case, the syndrome was initially diagnosed as a complete pentad, including a supra-umbilical abdominal wall defect, a sternal defect, pericardial defects, an anterior diaphragmatic defect, and heart malformation. Diagnosis required several imaging modalities, including computed tomography (CT) and magnetic resonance imaging (MRI). In this case report, we present an 8-month-old female patient with a thoracic wall defect with ectopia cordis and a bilateral cleft lip and palate. In addition, a head CT scan showed craniosynostosis, hypogenesis of the corpus callosum, and tonsillar cerebellar herniation. Thoracoabdominal CT revealed herniation of the transverse colon up to the subcutaneous layer, diaphragmatic hernia, atrial septal defects (ASD), ventral septal defects (VSD), and a persistent left superior vena cava (PLSVC). A multidisciplinary approach is required for the optimal management of this syndrome. We describe a female infant who presented with pentalogy of Cantrell syndrome and include the findings from postnatal CT imaging.

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. [ABSTRACT FROM AUTHOR]

Introduction: Body stalk anomaly is a severe defect of the abdominal wall, characterized by the evisceration of abdominal organs and, in more severe cases, thoracic organs as well. The most serious condition in a body stalk anomaly may be complicated by ectopia cordis, an abnormal location of the heart outside the thorax. The aim of this scientific work is to describe our experience with the prenatal diagnosis of ectopia cordis as part of the first-trimester sonographic screening for aneuploidy. Methods: We report two cases of body stalk anomalies complicated by ectopia cordis. The first case was identified during a first ultrasound examination at 9 weeks of gestation. The second was identified during an ultrasound examination at 13 weeks of gestation. Both of these cases were diagnosed using high-quality 2- and 3-dimensional ultrasonographic images obtained by the Realistic Vue and Crystal Vue techniques. The chorionic villus sampling showed that the fetal karyotype and CGH-array were both normal. Results: In our clinical case reports, the patients, immediately after the diagnosis of a body stalk anomaly complicated by ectopia cordis, opted for the termination of pregnancies. Conclusion: Performing an early diagnosis of a body stalk anomaly that is complicated by ectopia cordis is desirable, considering their poor prognoses. Most of the reported cases in the literature suggest that an early diagnosis can be made between 10 and 14 weeks of gestation. A combination of 2- and 3-dimensional sonography could allow an early diagnosis of body stalk anomalies complicated by ectopia cordis, particularly using new ultrasonographic techniques, the Realistic Vue and the Crystal Vue. [ABSTRACT FROM AUTHOR]

This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). 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. 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. 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. [ABSTRACT FROM AUTHOR]

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.

La pentalogía de Cantrell es una entidad infrecuente caracterizada por una combinación de alteraciones entre las que se destacan: defectos del pericardio, corazón, el diafragma, tercio inferior del esternón y la pared abdominal. Por otro lado, el divertículo cardíaco congénito es una rara malformación cuya presentación se asocia con pentalogía de Cantrell. Presentamos el caso de un escolar con esta afección a quien, durante seguimiento, se le diagnosticó divertículo del ventrículo izquierdo, que precisó manejo quirúrgico y que tuvo evolución favorable. El abordaje de estas condiciones requiere el uso de imágenes cardiovasculares que permiten la toma de decisiones oportunas por parte del equipo tratante.

Background: Cantrell's pentalogy (CP) is a rare congenital disease caused by morphological changes in the mesoderm. Defects of the lower sternum with ectopia cordis, midline supraumbilical abdominal wall, anterior diaphragm, diaphragmatic pericardium, and cardiac alterations are the related symptoms.Case report: The case report is a newborn boy with a prenatal diagnosis of abdominal wall defect caused by pentalogy of Cantrell class 1 and initial measures were taken to prevent adverse outcomes. Congenital syndromic disease, such as CP, is likely to be treated with early prevention and adequate prenatal controls. Also, early diagnosis facilitates effective clinical and surgical management and thus leads to a positive prognosis.Conclusion: Finally, it has been established that proper decision-making about therapeutic possibilities during the early years may improve the quality of life and longevity in this population.

Ectopia cordis is an extremely rare congenital cardiac malformation in which heart is partially or completely out of the thoracic cavity. We report a case of thoracic ectopia cordis diagnosed in a prefectoral hospital birthroom, located at north Togo, 400 km from Lome. It is the first case documented in a new born in our country. Resumen: La ectopia cordis es una anomalía cardíaca congénita extremadamente rara en la que el corazón se encuentra parcial o totalmente fuera de los límites de la caja torácica. Presentamos un caso de ectopia cordis torácica diagnosticado al nacer en un hospital de la prefectura del norte de Togo, a 400 km de Lomé (TOGO). Este es el primer caso documentado en un recién nacido en nuestro país.

Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide an opportunity as a spontaneous animal model for human disease. Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. It is a ventral midline closure defect with a proposed familial inheritance in humans. This syndrome involves five defects, including the thoracoabdominal wall, sternal, diaphragmatic, pericardial and cardiac malformations. Diverse expressions of these defects have been described in humans and sporadically in domestic animals. This severe syndrome commonly harbors a poor prognosis, posing an ethical and surgical dilemma. To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. The diagnosis was confirmed by advanced imaging (computed tomography) and postmortem examinations. The family history of this litter was explored and other cases in domestic animals were reviewed. This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. Similar to human cases, possible familial inheritance and suspected male gender bias were observed. Further research on this novel animal model, its pathogenesis and its hereditary basis, may be helpful in better understanding this rare developmental disorder.

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. [ABSTRACT FROM AUTHOR]

Ectopia cordis (EC) is a rare congenital malformation of the anterior chest wall resulting in an abnormal extra-thoracic location (partial or complete) of the heart. Ectopia cordis is a congenital heart exposure defined as complete or partial protrusion of heart through ventral defect in the thoracoabdominal wall alone or with other viscera in cases of pentalogy of Cantrell. This condition was first described by Haller et al1 since then many advances have been made. Diagnosis of ectopia cordis is done prenatally in well-equipped health facility by antenatal ultrasound scan so that early diagnosis and management plan can be initiated. The index case was delivered to uneducated rural family and admitted at 35 weeks of period of gestation for normal delivery and newborn survived till date, even though most literatures state that majority died within four days even with surgery. In view of this, we presented this case report to deliberately draw the attention of paediatrician/obstetrician to the fact that even though this condition is rare, proactive search and diagnosis should be made and early treatment should be instituted, so that such a child may be salvaged. We present a newborn baby with complete ectopia cordis in a resource-limited setting and how this newborn sustained till they could be moved to a better-resourced centre. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

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.

The ventral body wall (VBW) that encloses the thoracic and abdominal cavities arises by extensive cell movements and morphogenetic changes during embryonic development. These morphogenetic processes include embryonic folding generating the primary body wall; the initial ventral cover of the embryo, followed by directed mesodermal cell migrations, contributing to the secondary body wall. Clinical anomalies in VBW development affect approximately 1 in 3000 live births. However, the cell interactions and critical cellular behaviors that control VBW development remain little understood. Here, we describe the embryonic origins of the VBW, the cellular and morphogenetic processes, and key genes, that are essential for VBW development. We also provide a clinical overview of VBW anomalies, together with environmental and genetic influences, and discuss the insight gained from over 70 mouse models that exhibit VBW defects, and their relevance, with respect to human pathology. In doing so we propose a phenotypic framework for researchers in the field which takes into account the clinical picture. We also highlight cases where there is a current paucity of mouse models for particular clinical defects and key gaps in knowledge about embryonic VBW development that need to be addressed to further understand mechanisms of human VBW pathologies., (© 2024 The Author(s). Developmental Dynamics published by Wiley Periodicals LLC on behalf of American Association for Anatomy.)

Pentalogy of Cantrell is a rare congenital syndrome characterized by defects in the abdominal wall, sternum, diaphragm, and heart. A severe manifestation of this syndrome is ectopia cordis, where the heart is located partially or entirely outside the chest cavity. Gastroschisis involves a defect in the abdominal wall, where the intestines protrude outside the abdomen without a protective membrane. Cystic hygroma is a malformation of the lymphatic system leading to fluid-filled cysts. We present the case of a 29-year-old G3P0020 female initially seen for obstetric follow-up due to a threatened abortion at 11 weeks of gestation with vaginal bleeding. During a routine limited outpatient ultrasound at 11 weeks and four days of gestation, the heart was found to be entirely extrathoracic. Further ultrasound imaging confirmed the presence of ectopia cordis, gastroschisis, and cystic hygroma. Despite the poor prognosis and high risk of intrauterine fetal demise, the patient was referred to a higher-level care facility. This case highlights the critical role of first-trimester ultrasound in diagnosing severe fetal anomalies and the importance of early recognition and prompt referral for the best possible outcomes., Competing Interests: Human subjects: Consent was obtained or waived by all participants in this study. Conflicts of interest: In compliance with the ICMJE uniform disclosure form, all authors declare the following: Payment/services info: All authors have declared that no financial support was received from any organization for the submitted work. Financial relationships: All authors have declared that they have no financial relationships at present or within the previous three years with any organizations that might have an interest in the submitted work. Other relationships: All authors have declared that there are no other relationships or activities that could appear to have influenced the submitted work., (Copyright © 2024, Boyd et al.)

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., Competing Interests: The authors declare no conflicts of interest., (This work is licensed under a Creative Commons Attribution 4.0 International License.)

The limb body wall complex is a rare congenital disorder that is marked by various anomalies such as thoracoschisis, gastroschisis, limb defects and exencephaly. These defects are not compatible with life and result in spontaneous abortion or stillbirth. It is important to diagnose the anomalies on time and counsel the patients extensively to make the right decision. In this case report, we present a woman in her early twenties pregnant with a fetus with multiple anomalies including ectopia cordis, gastroschisis, meningomyelocele, kyphoscoliosis and congenital talipes equinovarus diagnosed as limb body wall complex at 18 weeks of gestation. Despite extensive counselling by the consultant, the couple decided to continue the pregnancy due to cultural beliefs which ultimately affected the maternal health. The fetus was spontaneously delivered at 28 weeks when the mother came to the hospital with ruptured membranes and the fetus was pronounced dead at birth. The co-occurrence of all these anomalies poses a challenge in diagnosis and management. Extensive counselling is required for the patient to make the appropriate decision for better outcomes. Cultural beliefs can play a major role in the decision-making of the patients and their families which can have a significant effect on maternal outcomes., Competing Interests: The author(s) declared no potential conflicts of interest with respect to the research, authorship and/or publication of this article., (© The Author(s) 2024.)

Background: Cantrell's pentalogy (CP) is a rare congenital disease caused by morphological changes in the mesoderm. Defects of the lower sternum with ectopia cordis, midline supraumbilical abdominal wall, anterior diaphragm, diaphragmatic pericardium, and cardiac alterations are the related symptoms. Case report: The case report is a newborn boy with a prenatal diagnosis of abdominal wall defect caused by pentalogy of Cantrell class 1 and initial measures were taken to prevent adverse outcomes. Congenital syndromic disease, such as CP, is likely to be treated with early prevention and adequate prenatal controls. Also, early diagnosis facilitates effective clinical and surgical management and thus leads to a positive prognosis. Conclusion: Finally, it has been established that proper decision-making about therapeutic possibilities during the early years may improve the quality of life and longevity in this population. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell (PC) is a rare congenital syndrome comprising five characteristic abnormalities that include midline anterior abdominal wall defect, sternal defect, diaphragmatic defect, defect in apical pericardium, and structural heart defect. The exact etiology of this syndrome is still unknown. However, many causative factors and association with other syndromes/aneuploidies (trisomy 18/trisomy 13) have been described in literature. Prognosis is often poor in cases with complete ectopia cordis with large defect. The postnatal surgical correction demands expert care in good resource settings. We are describing a rare case of severe form of PC with complete ectopia cordis and omphalocele, detected at 32 weeks of gestation. The patient had vaginal delivery of live female baby but unfortunately, the baby succumbed on day 2 of life. We are reporting this rare and fatal case to make health-care professionals more aware about importance of timely detection of such anomalies by anomaly scan in the second trimester before the period of viability so that the parents can make informed choice about termination of pregnancy in such lethal cases. Furthermore, the corrective surgeries can be planned beforehand with multidisciplinary approach in cases where affordability is not an issue for parents. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell (POC) is a rare congenital disorder characterized by lower sternal defect, diaphragmatic defect, pericardial defect, supraumbilical abdominal wall abnormalities, the incidence is 1 in 5.5 million live births. Case report was gathered from medical records, with ultrasound diagnosis at week 12 of gestation The cardiac defect was incompatible with life, without a genetic study. [ABSTRACT FROM AUTHOR]

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.

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. Longterm 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. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

In 1958, Cantrell et al. described an extremely rare syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericardium, and heart malformation.1 The incidence of pentalogy of Cantrell (POC) is one in 65,000 live births.1,2,3 Only one case was reported in Dr. Moewardi Public Hospital between 1999 and 2016. The exact etiology of this condition is unknown, but developmental failure of mesoderm at 4 weeks of gestational age may contribute to the condition.4 The prognosis depends on the degree of heart failure and the malformations that occur. Heart failure, arrhythmia, cardiac rupture, cardiac tamponade, endocarditis, and peripheral emboli are described as the main complications and causes of death.5,6 The aim of this report was to add to reference data about complete POC and the prognostic outcome.

Pentalogy of Cantrell (POC) is a rare condition characterized by complete or partial expression of 5 types of congenital birth defects originating in (1) the lower sternum, (2) the anterior diaphragm, (3) the diaphragmatic pericardium, (4) the midline/ventral supraumbilical abdominal wall region, and (5) the heart. POC can be diagnosed antenatally by means of ultrasonography (US), the task being difficult if defects are minor. Advances in the field of US and the introduction of the first morphology trimester as state-of-the-art pregnancy monitoring, facilitate the early diagnosis of this condition. We performed a systematic review on 67 reported cases of POC diagnosed in the first trimester of pregnancy (published from January 1980 to July 2019). The aim of our systematic review was twofold: to assess the main US findings in the first trimester of pregnancy and to increase awareness of early diagnostic possibilities. Our study showed that POC can be diagnosed in the first trimesterof pregnancy based on key US findings such as the association between omphalocele and ectopia cordis. When these two anomalies are present, increased nuchal translucency can also be considered a marker of POC in the first trimester. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]