Search

ABSTRACT: Pentalogy of Cantrell (PC) presents a distinctive challenge for clinicians and surgeons. In this case report, we have discussed the presentation, management, and literature review of a case of PC in a 17-month-old female child. The child was successfully managed with single-stage operation by a multidisciplinary team without any postoperative complications. [ABSTRACT FROM AUTHOR]

Pentalogy of Cantrell (PC) presents a distinctive challenge for clinicians and surgeons. In this case report, we have discussed the presentation, management, and literature review of a case of PC in a 17-month-old female child. The child was successfully managed with single-stage operation by a multidisciplinary team without any postoperative complications.

Introduction: Pentalogy of Cantrell is a rare congenital condition involving defects in the abdominal wall, sternum, diaphragm, pericardium, and heart. This report adds to the scarce literature by presenting a unique case from a resource-limited setting. Case presentation: An 8-h-old male neonate was admitted to the NICU with a thoracoabdominal defect observed at birth. Delivered in transit at term to a healthy mother with no prenatal anomalies identified, the neonate exhibited a pulsatile mass from the xiphisternum to the umbilicus, covered by a thin membrane with visible cardiac activity. Imaging and clinical evaluation confirmed herniation of the heart and liver through the defect, consistent with ectopia cordis and omphalocele, accompanied by a sternal defect and diaphragmatic communication. Echocardiography revealed severe intracardiac anomalies, including a single ventricle, single atrium, truncus arteriosus, and mild pericardial effusion. Additionally, a meningomyelocele was identified alongside bilateral clubfoot deformities. Initial management included stabilization with fluids, antibiotics, oxygen, and protective dressings for the exposed structures. The neonate experienced cardiac arrest on the third day of admission, and surgical intervention was not performed. Conclusion: Prenatal screening and prompt multidisciplinary intervention are essential to improve outcomes in cases of Pentalogy of Cantrell.

Left ventricular diverticulum (LVD) is a rare malformation presenting in 0.05% of all congenital cardiac anomalies. It is associated with additional cardiac and extracardiac malformations. We report on a female neonate with prenatally diagnosed heterotaxia and dextrocardia who was born with a pulsating supraumbilical mass. Echocardiography revealed a diverticulum originating from the left ventricle, which was connected to the umbilicus. Magnetic resonance imaging confirmed an LVD without evidence of a diaphragmatic hernia on the day of life 9. The child underwent laparotomy/lower sternotomy, and the diverticulum and epigastric hernia were closed. The postoperative course was uneventful, and the girl was discharged on the 10th postoperative day. In a neonate with a pulsatile supraumbilical mass, the diagnosis of a congenital LVD should be taken into consideration. The treatment is straightforward and was successful in this single case.

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.

Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team.

Objective To optimize the surgical strategies for sternal defect in children with pentalogy of Cantrell (PC) through comparing two types of sternal repair and outcomes. Methods From January 2009 to December 2022, clinical data were retrospectively reviewed for 11 PC children.They underwent stage Ⅰ surgeries at a median age of 181 days (interquartile range: 49 to 343 days) and with an average weight of (7.9±4.9) kg.There were substernal segment defects and congenital heart structural deformities, including complete PC(n=7) and incomplete PC (n=4).Stage Ⅰ cardiac retraction and sternal reconstruction were performed.According to the mode of repairing sternum, they were assigned into two groups of direct closure (n=6) and non-direct closure (GORE-TEX® patch repair, n=3;artificial sternum, n=1;titanium mesh, n=1).According to the imaging data before stage Ⅰ cardiac retraction operation, transverse dimension of the thorax on the level of diaphragm at the middle of anterior thoracic wall, the transverse dimension of sternal defect on the same level were measured, and the distance from the lowest margin of residual sternum to the above-mentioned level was measured as longitudinal dimension of sternal defect.We proposed a sternal defect index(SDI) and calculated, that is, the transverse dimension of sternal defect×2/(longitudinal dimension of sternal defect+transverse dimension of thorax×0.2). Results In the whole cohort, 2(2/11) died from cardiac failure post-operation.Nine survivors (9/11) were followed up for 6 to 120 months.One (1/9) child did not undergo complete cardiac surgery while the remainders (8/9) obtained excellent cardiac function, satisfactory thoracic appearance and decent quality-of-life.SDI value of direct closure group was lower than that of non-direct closure group with significant statistic difference (P=0.003);No significant inter-group differences existed in average age, body weight, proportion of complete PC or complex cardiac deformities (P>0.05). Conclusion The prognosis of PC is dependent largely upon the severity of cardiac heterotopia and intracardiac malformation.Different techniques of sternal reconstruction may be guided by SDI.It is an innovative tool for evaluating the severity of sternal defect.For children aged under 1 year with SDI < 1, direct sternal closure is recommended; if direct closure is not available, artificial material repair is a practical alternative. [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]

Pentalogy of Cantrell is a rare congenital anomaly involving the anterior diaphragm, pericardium, sternum, peritoneum, and associated intracardiac defects. In this report, we describe a neonate with pentalogy of Cantrell evaluated with multimodality imaging and successfully managed by a multidisciplinary team. [ABSTRACT FROM AUTHOR]

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.

Muneer Fazea,1,2 Mansour Alhameli,2,3 Faisal Ahmed,4 Mohammad Reza Askarpour,5 Wafa Murshed,2 Azizh Jarwsh,2 Amal Alkbous2 1Department of Radiology, School of Medicine, Ibb University of Medical Sciences, Ibb, Yemen; 2Department of Radiology, Al-Ma’amon Diagnostic Center, Sana’a, Yemen; 3Department of Radiology, Faculty of Medicine, Sana’a University of Medical Sciences, Sana’a, Yemen; 4Urology Research Center, Al-Thora General Hospital, Department of Urology, School of Medicine, Ibb University of Medical Sciences, Ibb, Yemen; 5Department of Urology, School of Medicine, Shiraz University of Medical Sciences, Shiraz, IranCorrespondence: Faisal Ahmed, Al-Thora General Hospital, Alodine Street, Ibb, Yemen, Email fmaaa2006@yahoo.comAbstract: Pentalogy of Cantrell is a congenital anomaly of the median mesodermal constructions with a poor prognosis. It is characterized by defects of the anterior diaphragm, the lower sternum, the abdominal wall, pericardium, and various congenital heart malformations. We present a case of ectopia cordis and Pentalogy of Cantrell in a newborn of a healthy 35-year-old woman with no history of embryotoxic exposure or smoking. The infant was first diagnosed with the anomaly in the second trimester of pregnancy and was delivered at 35 weeks of gestational age via a caesarian section. Shortly after birth, he was transferred to the neonatal intensive care unit (NICU) due to progressive respiratory failure, which ultimately, along with septicemia, led to infant death on the second day. In conclusion, the Pentalogy of Cantrell should be appropriately assessed for effective prenatal counseling and postnatal management with a multidisciplinary team; since infant survival assessment and early diagnosis give the parents the option of terminating the pregnancy.Keywords: case report, Pentalogy of Cantrell, ectopia cordis

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]

Pentalogy of Cantrell is a congenital anomaly characterized by a combination of birth defects involving the sternum, diaphragm, pericardium, abdominal wall, and heart. Pentalogy of Cantrell is a rare anomaly with high mortality. This paper describes the treatment of a 9-month-old girl with pentalogy of Cantrell, pentalogy of Fallot, and left ventricular diverticulum. The patient is alive and well 13 years after surgery. [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]

Pentalogy of Cantrell (POC) is a rare syndrome, with an omphalocele and ectopia cordis (EC) being pathognomonic anomalies. In this case report, a 12-week fetus, for nuchal translucency (NT) assessment, displayed a sac protruding through the midline of the fetal abdomen and lower thorax. The fetus' cardiac activity was detected within the sac. These sonographic appearances are consistent with omphalocele and EC, respectively. A thickened NT and cystic hygroma (CH) were also identified. An important finding was a 1.8 mm maxillary gap (MG), which is a new marker for possible early diagnosis of cleft lip and palate (CLP), in the first trimester. The coexistence of a MG with POC is unique. [ABSTRACT FROM AUTHOR]

Left ventricular diverticulum (LVD) is a rare malformation presenting in 0.05% of all congenital cardiac anomalies. It is associated with additional cardiac and extracardiac malformations. We report on a female neonate with prenatally diagnosed heterotaxia and dextrocardia who was born with a pulsating supraumbilical mass. Echocardiography revealed a diverticulum originating from the left ventricle, which was connected to the umbilicus. Magnetic resonance imaging confirmed an LVD without evidence of a diaphragmatic hernia on the day of life 9. The child underwent laparotomy/lower sternotomy, and the diverticulum and epigastric hernia were closed. The postoperative course was uneventful, and the girl was discharged on the 10th postoperative day. In a neonate with a pulsatile supraumbilical mass, the diagnosis of a congenital LVD should be taken into consideration. The treatment is straightforward and was successful in this single case., Competing Interests: Conflict of Interest None declared., (The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).)

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.

BackgroundPentalogy of Cantrell is a rare and deadly syndrome, manifesting as intracardiac anomalies and ventricular diverticulum. Echocardiographers have an insufficient understanding of pentalogy of Cantrell, which may lead to missed diagnoses, especially in cases lacking the most obvious signs.Case summaryOne of twin male infants, at a gestational age of 37 weeks, was found with a cardiac murmur and a pulsatile mass in the midline supraumbilical abdomen for 2 days. Echocardiography on admission indicated congenital heart disease. A cardiac murmur was detected in the 3–4 intercostal space and extensively spread. The infant was diagnosed with pentalogy of Cantrell by ultrasound and computed tomography angiography (CTA) preoperatively. The patient underwent heart deformity surgery and was followed up for 16 months. The patient's cardiac structure and function returned to normal.ConclusionIntracardiac anomaly and ventricular diverticulum are the primary manifestations of pentalogy of Cantrell. Pentalogy of Cantrell may be diagnosed by combining the ultrasound and CTA findings.

Introduction: Pentalogy of Cantrell is a rare congenital disorder characterized by midline birth anomalies. Its embryological origins are related to anomalies of the abdominal wall that prevent the closure of the thorax. Its etiology is not yet clear, but it has been associated with a failure of migration of the lateral plate mesoderm to the midline. Case description: A stillbirth at 25.2 weeks of gestation diagnosed with pentalogy of Cantrell. The mother was a 14-year-old teenager with no relevant history of disease. An obstetric ultrasound was performed at 19 weeks of gestation and revealed findings suggestive of pentalogy of Cantrell. The mother was informed of the potential risks and future complications for the fetus, yet she chose to continue with the pregnancy. At 25.2 weeks of gestation, the mother went to the emergency department due to pain in the hypogastrium accompanied by moderate vaginal bleeding and absence of fetal activity. Once fetal death was confirmed by ultrasound, labor was induced, resulting in stillbirth with anencephaly, thoracic hypoplasia, gastroschisis, and eventration of the liver. Conclusions: Adequate antenatal care, including strict ultrasound follow-up, is essential to detect future complications in the fetus; to provide advice on possible malformations incompatible with life, such as pentalogy of Cantrell; and to determine the best therapeutic approach.

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]

Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births. This anomaly involves diaphragmatic pericardial defects, lower sternal defect, intracardiac anomalies, ventral abdominal wall abnormality, and anterior diaphragmatic defect. Considering the number of presented anomalies, PC is classified into three groups of certain, probable, or incomplete pentalogy. Although the etiology of PC is unknown, it has been assumed that abnormalities in intra embryonic mesodermal differentiation formation and migration at around 14-18 days after conception are responsible for the anomalies observed in PC. The prenatal diagnosis of the PC can be made via prenatal two-dimensional or three-dimensional ultrasound. Case report: This case report investigated an Iranian 2-hour-old full-term neonate who was referred to Imam Reza Hospital, Kermanshah, Iran, due to respiratory distress and abdominal wall defect. The patient was finally diagnosed with a probable PC, although his prenatal investigations were considered normal. Conclusion: Although ultrasonography is a widely available tool for prenatal diagnosis of PC, as in our case, the absence of ectopic heart and omphalocele makes the prenatal diagnosis of PC via ultrasonography less possible. Keyword

Objective:  To summarize experience in the treatment of pentalogy of Cantrell (POC) in our hospital and explore the effect of artificial materials in repairing sternal defects.Materials and Methods:  A retrospective analysis was performed on treatment of five children with POC treated by using the Gore-Tex patch and titanium mesh in the Department of Cardio-Thoracic Surgery, Children's Hospital of Chongqing Medical University, from January 2010 to January 2019.Results:  The concurrent conditions included double outlet of right ventricle (n = 2), ventricular septal defect (VSD) and atrial septal defect (ASD) (n = 1), VSD and ASD and patent ductus arteriosus (n = 1), and VSD and left ventricular diverticulum (n = 1) in five cases with POC. Color Doppler echocardiography and computed tomography (CT) + three-dimensional (3D) reconstruction of the thorax and abdomen were performed preoperatively. The cardiac malformation was corrected according to color Doppler echocardiography, and a Gore-Tex patch was used to repair the pericardial defect. Titanium mesh was made according to CT 3D reconstruction with a 3D printing mold to repair sternal defects. All patients underwent a one-stage operation, all hearts were eventually repositioned, no deaths occurred after the operation, and follow-up was performed for 6 months to 2 years. The patients recovered well, and the exterior thorax was normal.Conclusion:  The diagnosis of POC is not difficult. The priority of surgical treatment for POC is to obtain satisfactory corrections of cardiac malformation. The repair of the pericardial defect with the Gore-Tex patch and the sternal defect with the titanium mesh can make the heart return to the mediastinum, reduce the pressure on the heart, reduce the surgical trauma, reduce the difficulty of repairing the sternal defect, and optimally restore the exterior thorax. [ABSTRACT FROM AUTHOR]

Medical imaging plays a significant role in the detection of foetal anomalies, such as the Pentalogy of Cantrell (POC). POC is a congenital anomaly involving five or fewer body malformations: ectopia cordis (EC), tetralogy of fallot (TOF), sternal defects, diaphragmatic defects, and abdominal wall defects. The commonly used imaging modality in the detection of POC during pregnancy is ultrasound because it uses non-ionising radiation, is cheap, and is available in most medical facilities. We report a rare case of POC from a medical imaging standpoint in Zambia. Two rd obstetric ultrasound scans were performed in the 3 trimester. The initial scan revealed, among other things, unappreciated abdominal contents, while the second scan revealed a foetal heart sited partially external to the thoracic cavity, with external herniation of the liver and bowels. Our case was classified as incomplete POC because not all five main malformations were present. This case report highlights the importance of having well-organised obstetric ultrasound imaging services both in urban and rural parts of the country to improve antenatal care. [ABSTRACT FROM AUTHOR]

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]

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.

Background: Pentalogy of Cantrell (PC) is an extremely rare congenital anomaly which was first described in 1985. The incidence of the PC has been reported to vary from 5.5-7.9 cases per million live births. This anomaly involves diaphragmatic pericardial defects, lower sternal defect, intracardiac anomalies, ventral abdominal wall abnormality, and anterior diaphragmatic defect. Considering the number of presented anomalies, PC is classified into three groups of certain, probable, or incomplete pentalogy. Although the etiology of PC is unknown, it has been assumed that abnormalities in intra embryonic mesodermal differentiation formation and migration at around 14-18 days after conception are responsible for the anomalies observed in PC. The prenatal diagnosis of the PC can be made via prenatal two-dimensional or three-dimensional ultrasound. Case report: This case report investigated an Iranian 2-hour-old full-term neonate who was referred to Imam Reza Hospital, Kermanshah, Iran, due to respiratory distress and abdominal wall defect. The patient was finally diagnosed with a probable PC, although his prenatal investigations were considered normal. Conclusion: Although ultrasonography is a widely available tool for prenatal diagnosis of PC, as in our case, the absence of ectopic heart and omphalocele makes the prenatal diagnosis of PC via ultrasonography less possible. [ABSTRACT FROM AUTHOR]

Objective: Cantrell syndrome, a rare congenital disorder, is characterized by a unique collection of defects on the midline abdominal wall, the lower sternum, the anterior diaphragm, and the diaphragmatic pericardium in addition to some form of intracardiac defect. So far, most of the reports on fetuses with Cantrell syndrome worldwide are either case reports or literature reviews, and few comprehensive studies on fetuses with Cantrell syndrome have been reported, especially in domestic literature. This study aims to provide a detailed analysis of 15 cases of Cantrell syndrome fetuses, focusing on their prenatal ultrasound manifestations and postnatal examination outcomes., Methods: A retrospective analysis was conducted with 15 cases of fetuses diagnosed with Cantrell syndrome via prenatal ultrasound examinations between March 2018 and July 2023. Ultrasound examinations were performed in accordance with the Guidelines for Obstetric Ultrasound in China, including first-trimester fetal ultrasound scan and routine second-trimester fetal ultrasound scan. Gestational age was evaluated and nuchal translucency (NT) was measured during first-trimester fetal ultrasound scan at 11 to 13+6 weeks. The diagnostic criterion for NT thickening was NT≥3.0 mm and the screening of severe fetal structural malformations was performed, including the screening of the head, the neck, the thorax, the abdominal content, the abdominal wall, the limbs and other structures. During routine second-trimester fetal ultrasound scan, the fetal biometry was assessed and an anatomy survey was performed. Post-induction and postnatal outcomes of fetuses diagnosed with Cantrell syndrome by prenatal ultrasound were followed up by postnatal observation, inquiries with the electronic medical record system, or telephone follow-up. The prenatal ultrasound imaging manifestations and features of the fetuses with Cantrell syndrome, as well as their post-induction or postnatal examination results were comprehensively summarized and analyzed., Results: The study involved pregnant women of the average age of 30.1±3.5 years, with ultrasound diagnoses made between 11 to 26 weeks of gestation (mean: 13.4±4.0 weeks). Among the 15 cases, there were 10 singleton pregnancies and 5 cases of one twin in a pair of twins. These twins comprised 3 monochorionic diamniotic twins and 2 dichorionic diamniotic twins, with Cantrell syndrome present in one of the twins in all 5 cases. Thirteen cases were diagnosed by fetal ultrasound scan conducted in the first trimester, with 10 being singleton pregnancies and 3 being twin pregnancies (1 monochorionic diamniotic twins and 2 dichorionic diamniotic twins). One case was missed in the first-trimester ultrasound scan, resulting in a missed diagnosis rate of 7.1%. Two cases were diagnosed in second-trimester fetal ultrasound scan, both involving monochorionic diamniotic twins. One case was a referral from another hospital at 19 weeks, while the other was initially not diagnosed for Cantrell syndrome and was diagnosed at 26 weeks. Prenatal ultrasound examinations revealed a consistent pattern of abnormalities across all 15 fetuses, including manifestations of ectopic cordis combined with abdominal protrusion mass. Specifically, 4 cases were diagnosed with omphalocele, 4 with gastroschisis, and the remaining 7 had uncertain coverage of the membrane on the surface of the abdominal protrusion mass. Six fetuses had complete ectopic cordis, while nine had partial ectopic cordis. Fetal echocardiography was performed in 5 cases, revealing intracardiac malformations in 4 cases (80%). Notably, 2 cases were diagnosed in the second trimester, including one with right ventricular hypoplasia accompanied by interventricular septal defect and another with double outlet right ventricle accompanied by interventricular septal defect. Additionally, 2 cases were diagnosed in the first trimester, one with single atrium and single ventricle, and the other with complete transposition of the great arteries. Of the 15 cases of fetuses with Cantrell syndrome, 13 (86.7%) exhibited concomitant malformations in other systems. These included 7 cases of spinal malformations, 4 limb abnormalities, 3 umbilical cord abnormalities, 2 central nervous system malformations, 1 facial malformation, and 2 fetal hydrops. Spinal malformations were the most prevalent concomitant malformation, accounting for 46.7% of all cases. Among the 14 fetuses undergoing NT examination, 7 (50%) had increased NT, and 5 of them had cystic hygroma. All 10 singleton pregnancies underwent induced abortion, and the appearance of the induced fetuses was consistent with the prenatal ultrasound manifestations. In the twin pregnancies, 2 cases experienced intrauterine fetal death, while 2 underwent selective reduction. Notably, 3 of these cases exhibited postnatal appearances consistent with prenatal ultrasound manifestation, while 1 case showed an indistinct appearance after selective reduction during delivery. One case was lost to follow-up. Genetic testing was conducted for 4 induced fetuses, none of which yielded any relevant pathogenic or potentially pathogenic variants., Conclusion: In conclusion, Cantrell syndrome manifests prenatally with ectopic cordis combined with abdominal protrusion mass, often accompanied by intracardiac malformations and other concomitant malformations. While most cases can be diagnosed in the first trimester, there remains the possibility of missed diagnoses, which underscores the importance of close follow-up in the second trimester., Competing Interests: 利益冲突　所有作者均声明不存在利益冲突, (© 2024《四川大学学报（医学版）》编辑部 版权所有Copyright ©2024 Editorial Office of Journal of Sichuan University (Medical Sciences).)

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.

Several recurrent malformation associations affecting the development of the embryo have been described in which a genetic etiology has not been found, including LBWC, MURCS, OAVS, OEIS, POC, VACTERL, referred to here as "recurrent constellations of embryonic malformations" (RCEM). All are characterized by an excess of reported monozygotic discordant twins and lack of familial recurrence. We performed a comprehensive review of published twin data across all six phenotypes to allow a more robust assessment of the association with twinning and potential embryologic timing of a disruptive event. We recorded the type of twinning, any overlapping features of another RCEM, maternal characteristics, and the use of ART. Statistically significant associations included an excess of monozygotic twins and 80% discordance rate for the phenotype across all twins. There was an 18.5% rate of ART and no consistently reported maternal adverse events during pregnancy. We found 24 instances of co‐occurrence of two RCEM, suggesting a shared pathogenesis across all RCEM phenotypes. We hypothesize the following timing for RCEM phenotypes from the earliest perturbation in development to the latest: LBWC, POC, OEIS, VACTERL, OAVS, then MURCS. The RCEM group of conditions should be considered a spectrum that could be studied as a group. [ABSTRACT FROM AUTHOR]

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]

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. [ABSTRACT FROM AUTHOR]