Cantrell's pentalogy, complications associated with Glenn surgery, innovation in haemodynamic management.

Pentalogy of Cantrell (PC) is a rare congenital syndrome involving the abdominal wall, sternum, diaphragm, pericardium, and heart. The embryonic period in which PC develops coincides with that of umbilical cord (UC) formation. The aim of the following study was to address the question of whether PC is associated with UC pathologies. Four cases, prenatally identified between 2002 and 2008, were enrolled in this study. Umbilical cord pathologies defined as single umbilical artery, short cord, or UC with atypical coiling pattern were retrospectively assessed on stored ultrasound images and from autopsy reports. The literature regarding PC and UC pathologies was reviewed. Three singleton pregnancies and 1 monoamniotic twin pregnancy with twin reversed arterial perfusion sequence were reviewed. All had a normal karyotype. Three showed the classical PC stigmata, with ectopia cordis. One fetus had no ectopia cordis; this case had a normal UC, whereas all others fetuses showed a short UC with atypical coiling pattern. Of 26 publications dealing with PC, the UC was described in only 8 cases, 7 of which were abnormal. There seems to be a strong correlation between the PC and UC abnormalities, in particular in cases with ectopia cordis. We speculate that the insult leading to the classical malformations of PC and UC abnormalities is the same or the sequence of malformations itself may alter the early fetoplacental blood flow and therefore the normal development of the UC angioarchitecture.

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. 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. 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. 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.

Pentalogy of Cantrell (PC) is a congenital anomaly characterized by a defect in the lower sternum, anterior diaphragm, and anterior abdominal wall; ectopia cordis; and congenital heart disease. It is a very rare congenital anomaly and the prenatal diagnosis is possible in the beginning of second trimester of pregnancy using the conventional ultrasonography. The prognosis is poor with high rates of perinatal mortality. We present a case report of prenatal diagnosis of PC at 22 weeks and 3 days of gestation. We emphasize the prenatal care follow up in a tertiary reference center, the parental counseling, the planning of delivery, and the management of newborn by a multidisciplinary team, including the description of immediate postnatal surgical repair.

Pentalogy of Cantrell (PC) is a rare congenital disorder that presents with several midline defects including the abdominal wall, sternum, diaphragm, pericardium, and heart. Surgical intervention for omphaloceles and cardiac defects typically occur in infancy, but the optimal surgical repair for thoracoabdominal wall defects varies by patient. We present a 15-year-old female with PC, who underwent previous omphalocele, diaphragm, and cardiac repair as an infant, with recurrent ventral and diaphragmatic defects as well as a large sternal cleft with ectopia cordis. This case demonstrates the feasibility of delayed definitive surgical repair of the abdominal wall, diaphragm, and sternum utilizing titanium plates, sternal wires, and myocutaneous advancement flaps. While several surgical approaches have been described for repair of sternal defects in infants and children with PC, large defects remain challenging to obtain rigid and lasting cardiac coverage without compressing the heart but still allowing for growth of the chest wall.

The pentalogy of Cantrell (PC) was first described in 1958. It includes five anomalies: a deficiency of the anterior diaphragm, a midline supraumbilical abdominal wall defect, a defect in the diaphragmatic pericardium, various congenital intracardiac abnormalities, and a defect of the lower sternum. Five patients showing the PC spectrum are reported. The report presents the prenatal diagnosis, the postnatal course, and the patients' outcome at a tertiary care center from June 2001 to May 2012. A literature review and the management plan for this group of patients also are discussed. All patient data were obtained via electronic medical records retrospectively after approval by the institutional review board at the home institution. The patients in the study were three males and two females. For all of the patients, a prenatal diagnosis had been determined. The mean gestational age at delivery was 36.6 weeks. One patient had associated cranial and spine malformations. All the patients had associated congenital heart disease but a normal karyotype. Four of the five patients died in the first year of life. The ages at death ranged from 0 to 259 days (mean, 46.2 ± 51.8 days). The patients who did not survive had withdrawal of care due to increased morbidity, associated complications, or parental wishes. The pentalogy of Cantrell is a wide spectrum of associations. Patients with the complete PC together with complex congenital heart disease or extracardiac malformations may have a poor prognosis. Incomplete PC cases may have a better outcome based on associated anomalies. Prenatal counseling plays a very important role in the decision-making process for the families and has a significant impact on the postnatal management. A multidisciplinary team approach is essential for successful postpartum outcomes.

Pentalogy of Cantrell (PC) is a rare congenital defect associated with five midline anomalies. The type of cardiac malformation and the size of the abdominal wall defect is often responsible for the high mortality. Of interest, the embryonic period in which PC develops is similar to that of the umbilical cord's (UC) formation. The aim of the following study was to investigate the relationship between UC anomalies and PC. Charts of four cases with PC from 2002–08 were retrospectively reviewed for associated UC anomalies. UC anomalies were defined as single umbilical artery (SUA), short cord (during 1st trimester less than CRL or less than 30cm at term) or atypical UC coiling pattern. We identified four cases: 3 singletons and one monochorionic diamniotic twin pregnancy with TRAP sequence. All cases showed a normal karyotype. All but one demonstrated the classical pulsatile omphalocele with ectopia cordis and all others anomalies of PC. One case was characterized by a major cranial omphalocele without ectopia cordis and no UC anomaly. This fetus was delivered by Cesarean at term and successfully operated on d1. In all other cases the parents requested ToP. Among the three cases with ectopia cordis, two had a short UC with SUA and one a short three-vessel cord; all these three UC were markedly uncoiled. Our data suggest a strong association between Cantrell and the development of the UC, in particular in cases with ectopia cordis. One might speculate that hemodynamic alterations of the feto-placental blood flow because of the cardiac malformation or structural changes at the umbilical ring (omphalocele) influence the development of the UC. More observations are needed to decide if Cantrell is a “hexalogy” instead of pentalogy.

Surgical treatment of three cases of Cantrell's syndrome

Pentalogy of Cantrell (POC) is a very rare congenital anomaly and treatment has remained a challenge worldwide owing to extensive reconstructive surgeries, more so in resource-constrained settings. We, therefore, report two cases of complete POC. Both successfully underwent planned reconstructions by a multidisciplinary team. The techniques and challenges are hereby highlighted.

Introduction: Pentalogy of Cantrell (POC) is a rare congenital anomaly with two sub-categories: complete or partial. Complete has all five defects (anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies, and lower sternal defect). The first documented case was described by Cantrell et al. in 1958. Both sporadic and genetic causes have been proposed for POC, with a reported incidence of 5 - 10 cases per one million live births and various clinical presentations. The prognosis of POC depends on the severity of the defects and the associated cardiac anomalies. This case report seeks to increase awareness of this condition, emphasize the need for appropriate counselling in our environment, and review the literature on previous reported cases’ outcomes. Case Presentation: A 5-hour-old term female neonate was referred to our Children Emergency Center with multiple defects (ectopia cordis, sternal cleft, omphalocele, and limb abnormalities) with dysmorphic facies. A diagnosis of POC was made, and multidisciplinary management was instituted. The eviscerated heart and epigastric omphalocele were dressed and evaluated for palliative surgical care. However, she developed complications with sepsis and electrolyte derangements and died from multi-organ failure before any surgical intervention could be carried out. Conclusion: Though rare, the Pentalogy of Cantrell in its classical form does occur in our environment. The presence of extracardiac and limb deformities worsens the outcome. Based on poor outcomes, there is a need to emphasize appropriate antenatal and postnatal assessments to provide effective counselling on termination, neonatal palliative care, and surgical repairs as appropriate.

SummaryBackgroundPentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool and is indispensible in the diagnosis of POC. Despite the rarity of POC, it is imperative for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Most reported cases in literature till now have been sporadic. In this paper, we aimed to report for the first time in literature, a recurrent case of POC detected in the first trimester in a mother whose previous pregnancy also was terminated in the second trimester medically due to the ultrasound diagnosis of POC. We also discuss the role of ultrasound and other imaging modalities in a case of POC as well as the differential diagnoses which can mimic POC.Case ReportA 23-year-old G2P0A1 (Gravida2, para0, abortion1) woman with a gestational age of around 12 weeks was referred for a routine first trimester ultrasound scan. The antenatal ultrasound scan showed a single, live, intrauterine gestation corresponding to a gestational age of 11 weeks and 5 days. The fetal heart was visualized outside the chest through a defect in the lower sternum in association with anterior diaphragmatic and ventral abdominal wall defects suggestive of thoraco-abdominal variety of ectopia cardis. There was a membrane covered, midline, abdominal wall defect at the base of the umbilical cord insertion containing the herniated abdominal organs including the liver, bowel loops and the ectopic cardia. There was a breach in the normal outline of the lower sternum indicating a sternal deficiency. The fetal pericardium was absent. The nuchal translucency was grossly increased. Pentalogy of Cantrell was diagnosed on ultrasound and the patient was explained about the poor prognosis of this condition. An informed consent was obtained after she opted for medical termination of pregnancy. The autopsy confirmed all the above mentioned ultrasound features.ConclusionsPentalogy of Cantrell (POC) is an extremely rare and complex syndrome of numerous fetal anomalies but should always be borne in the mind during the ultrasound evaluation of either of an omphalocele, ectopia cordis, distal sternal defect, pericardial defect, anterior diaphragmatic defect or intracardiac anomalies. Ultrasound is a valuable, safe, nonionizing, cost effective, widely available, and easily reproducible imaging tool for diagnosis of POC. Ultrasound should always be the primary mode of diagnosis in POC because although Magnetic resonance imaging (MRI) can help in better delineation of fetal anomalies, it does not significantly alter the course of the pregnancy or the management of POC.

Pentalogy of Cantrell: Complete expression with mediastinal teratoma

ENWEndNote BIBJabRef, Mendeley RISPapers, Reference Manager, RefWorks, Zotero AMA Galeczka M, Fiszer R, Knop M, Smerdzinski S, Szkutnik M, Bialkowski J. Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis. Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej. 2019;15(2):247-250. doi:10.5114/aic.2019.86018. APA Galeczka, M., Fiszer, R., Knop, M., Smerdzinski, S., Szkutnik, M., & Bialkowski, J. (2019). Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis. Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej, 15(2), 247-250. https://doi.org/10.5114/aic.2019.86018 Chicago Galeczka, Michal, Roland Fiszer, Mateusz T. Knop, Sebastian Smerdzinski, Malgorzata Szkutnik, and Jacek Bialkowski. 2019. "Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis". Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej 15 (2): 247-250. doi:10.5114/aic.2019.86018. Harvard Galeczka, M., Fiszer, R., Knop, M., Smerdzinski, S., Szkutnik, M., and Bialkowski, J. (2019). Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis. Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej, 15(2), pp.247-250. https://doi.org/10.5114/aic.2019.86018 MLA Galeczka, Michal et al. "Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis." Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej, vol. 15, no. 2, 2019, pp. 247-250. doi:10.5114/aic.2019.86018. Vancouver Galeczka M, Fiszer R, Knop M, Smerdzinski S, Szkutnik M, Bialkowski J. Successful atrial septal defect transcatheter closure in a patient with pentalogy of Cantrell and ectopia cordis. Advances in Interventional Cardiology/Postępy w Kardiologii Interwencyjnej. 2019;15(2):247-250. doi:10.5114/aic.2019.86018.

Cantrell Pentalogy is a rare congenital anomaly that affects the development of organs in the thorax and abdomen of a fetus, characterized by five primary defects: anterior abdominal wall defects, sternal defects, diaphragmatic defects, cardiac anomalies, and defects in other organs such as lungs, liver, kidneys, and central nervous system. It is named after the American physician Everett R. Cantrell, who first described the condition in 1958. Cantrell Pentalogy is an extremely rare and severe condition, often associated with high mortality rates due to respiratory and cardiac complications. Treatment typically involves early-life surgical repair; however, the prognosis remains guarded and depends on the severity of the defects and the presence of other associated anomalies. This case report presents the diagnosis of Cantrell Pentalogy in a female patient at birth and provides a 190-day follow-up of her 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. Keyword

Pentalogy of Cantrell With a Left Ventricular Diverticulum and Muscular VSD