The pentalogy of Cantrell: A rare and challenging prenatal diagnosis

Abstract

Introduction

The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases.

Presentation of case

In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases.

Discussion

Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life.

Conclusions

Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons.

Highlights

• •The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy
• •Cantrell pentalogy is difficult to diagnose because it is rare and unknown to many sonographers. By raising awareness of the symptoms, clinicians can make an early diagnosis.
• •Results can be improved with early detection and multidisciplinary management
• •The prognosis is typically dismal with low survival and quality of life. Early diagnosis gives the practitioner the opportunity to discuss with the parents the various therapeutic alternatives, ranging from therapeutic termination of pregnancy to postnatal surgery pending advances in intrauterine surgery.

1. Introduction

Cantrell pentalogy is an uncommon birth defects condition with a prevalence of 1.3:1 in males and an incidence of 1–60: 200,000 births. It was first described by Dr. Cantrell in 1958 and hence the name “Cantrell pentalogy” [1]. The condition is characterized by five primary features: Defects in the diaphragm, abdominal wall defects, sternal defects, pericardial defects and cardiac abnormalities. Since no single genetic flaw has been linked to it, the original theory attributed to this disease is that lateral mesoderm development was stopped between 14 and 18 days of embryonic development [1].

Cantrell pentalogy is a complex condition that requires multidisciplinary care involving multiple medical specialties, including cardiology, pediatrics, genetics, and surgery [2]. Few cases of pentalogy of Cantrell have been reported in the literature [3]. There is a need to better understand this condition in order to improve early diagnosis. We report two cases of this very rare pathology, for which early prenatal diagnosis is even rarer, if not exceptional, to provide a comprehensive overview of the clinical presentation, diagnostic evaluation, management, and outcomes of these two cases and to highlight the challenges and complexities associated with Cantrell pentalogy. The work has been reported in line with the SCARE criteria [4].

2. Case presentation

2.1. Case 1

A 29-year-old woman, gravida 1 para 0, came to our department for a routine prenatal ultrasound at 12 weeks of gestation. The patient had no significant medical history and no family history of congenital anomalies. The clinical examination did not reveal any abnormalities. The prenatal ultrasound showed a single, live, intrauterine gestation corresponding to a gestational age of 12 weeks and 2 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 thoracoabdominal variety of ectopia cordis. 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 and the ectopic cardia (Fig. 1). Chorionic villus sampling was done. The Karyotype was 46 XX. We would have preferred to add Chromosomal microarray analysis and Whole exome sequencing, but due to lack of resources we were unable to do so. Considering these findings, the diagnosis of Pentalogy of Cantrell Toyama 1 was retained. Given the severity of the fetal abnormalities and the risks associated with Cantrell Pentalogy, a multidisciplinary care approach was adopted for the patient's management. A team of obstetricians, perinatologists, and neonatologists, along with a genetic counselor, were involved in the management plan. After extensive discussions with the patient and her family, the decision was made to offer medical pregnancy termination due to the poor prognosis of the fetus and the potential risks to the mother's health during continued pregnancy. The patient was provided with counselling and support throughout the decision-making process. Medical pregnancy termination was performed under close monitoring and supervision. Expulsion of the fetus was achieved safely. The patient was discharged after receiving a psychological care. The autopsy confirmed all the abovementioned ultrasound features (Fig. 2). A clinical and ultrasound check was carried out at 6 weeks post abortion and did not reveal any abnormalities.

Fig. 1.

Two-dimensional sonographic examination showed that the heart (yellow arrow) and liver (blue arrow) extruded through the lower chest and upper abdomen. (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 2.

Fetopathological examination showed that the heart (yellow arrow) and liver extruded through the lower chest and upper abdomen (blue arrow). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

2.2. Case 2

The patient in this case is a 32-year-old patient who was referred to our department at 15 + 1 weeks of gestation. She was gravida 4, para2 and had no significant medical history. The patient did not report any family history of congenital anomalies or exposure to teratogenic agents during pregnancy. The clinical examination did not reveal any abnormalities. The patient's prenatal ultrasound revealed multiple fetal anomalies, including a midline abdominal wall defect, a ventral wall defect, a large omphalocele, and a diaphragmatic hernia. Additionally, the fetus had a thoracoabdominal ectopia cordis, with the heart and part of the liver located outside of the chest cavity (Fig. 3, Fig. 4). Genetic testing was not performed due to financial constraints faced by the parents, which limited their ability to undergo additional testing. Amniocentesis was not performed (refused by the patient).

Fig. 3.

Two-dimensional sonographic examination showed abdominal wall defects (yellow arrow). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

Fig. 4.

Two-dimensional sonographic examination showed heart and liver extruded through the lower chest and upper abdomen (blue circle). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

These findings were highly suggestive of Cantrell pentalogy Toyama 1. Given the severity of the condition and the associated risks to both the mother and the fetus, a multidisciplinary approach involving obstetricians, perinatologists, neonatologists, and cardiothoracic surgeons was initiated. After thorough counselling and discussion of the prognosis, the patient and her family made an informed decision to pursue medical pregnancy termination due to the complex nature of Cantrell pentalogy and the potential risks to the mother's health. The patient was closely monitored throughout the process of medical termination, and supportive measures were provided to manage any complications that arose. The termination of pregnancy was performed in a controlled environment under the supervision of a skilled medical team. Expulsion of the fetus was achieved safely. The patient was discharged after receiving a psychological care. The autopsy confirmed all the abovementioned ultrasound features (Fig. 5). An ordinary clinical check-up was carried out. The patient's examination did not reveal any particular psychological damage.

Fig. 5.

Fetopathological examination showed heart and liver and bowels extruded through the lower chest and upper abdomen (yellow arrow). (For interpretation of the references to colour in this figure legend, the reader is referred to the web version of this article.)

3. Discussion

Cantrell's pentalogy is an extremely rare congenital disorder [1]. It is difficult to diagnose because it is not widely recognized by sonographers. It was first described by James R. Cantrell in 1958 [2]. The exact cause of Cantrell pentalogy is not fully understood, and it is likely to be multifactorial, involving a combination of genetic and environmental factors [3]. BMP2 (bone morphogenetic protein 2) gene mutations, according to some researchers, are the main reason for this condition since these genes are responsible for normal midline structure development [3]. Aldehyde dehydrogenase 1 family member A2 (ALDH1A2) on chromosome 15 has recently been linked to the Pentalogy of Cantrell progression [5]. Cantrell pentalogy can present with a wide range of variability in clinical features, ranging from mild to severe [6]. The presentation may vary in terms of the extent and severity of abdominal wall defects, sternal cleft, associated cardiac anomalies, and other associated abnormalities which include abnormalities of the central nervous system, the face, the intestinal system, and the limbs, present in up to 28 % of individuals affected [7]. A common classification system TOYAMA is used to assess the severity of Cantrell pentalogy and is based on the presence or absence of certain anatomical features [8].Our two cases were Class I of Toyama's classification, which exhibited all five significant defects and additional primary and minor anomalies. Diagnosis of Cantrell pentalogy may require a combination of clinical examination, imaging studies such as ultrasound, MRI, fetal echocardiography, and genetic testing [9]. Ultrasound could identify this anomaly in the first gestational trimester [10] as seen in our patients. In some situations, MRI examination is used to confirm the diagnosis and establish fetal anomalies [11]. Fetal echocardiography is now used to support the diagnosis of cardiac abnormalities associated with the Pentalogy of Cantrell [9]. While most cases occur at random with no known cause, some familial cases have been identified, suggesting that genetic factors may be involved. However, more research is needed to understand the exact causes of Cantrell's pentalogy.

The many anatomical abnormalities associated with the pentalogy of Cantrell make surgical care a difficult and complex task [10]. The specific surgical procedures performed will depend on the individual case [12]. The prognosis varies according to the severity of the anomalies. Few fetuses survive, and even fewer survive with good quality of life. The prognosis is poorer in the complete form of pentalogy and in cases with other associated anomalies [13]. Abortion may be offered in severe cases [14]. Early recognition of Cantrell pentalogy is crucial for prompt and appropriate management [9]. Cantrell pentalogy requires a multidisciplinary approach involving a team of healthcare professionals with expertise in neonatology, pediatric cardiology, pediatric surgery, radiology, and other relevant specialties [12].

Cantrell pentalogy has substantial emotional and psychological implications on the family in addition to the affected infant [3]. Providing comprehensive counselling to affected families is crucial, including discussing the diagnosis, prognosis, available treatment options, and potential long-term outcomes. Supportive care, psychological counselling, and guidance for decision-making are important aspects of managing families affected by Cantrell pentalogy. The rarity and complexity of Cantrell pentalogy highlight the importance of increasing awareness among healthcare providers, including obstetricians, neonatologists, and pediatric surgeons, to facilitate early recognition, prompt referral to specialized center, and coordinated multidisciplinary management [9].

4. Conclusion

Cantrell pentalogy is a rare congenital disorder that presents with defects in the diaphragm, abdominal wall, sternum, pericardium, and heart. Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. The severity of the condition can vary widely, and management depends on the specific abnormalities present. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. Early diagnosis requires adequate initial training for sonographers, as well as regular in-service training.

Consent

Written informed consent was obtained from both patients for publication of this case report and the accompanying images. A copy of the written consent is available on request to the Editor-in-Chief of this journal.

Ethical approval

The study is exempt from ethnical approval in our institution. Only the patient's authorization is required. Written informed consent was obtained from both patients for publication of this case report and the accompanying images. A copy of the written consent is available on request to the Editor-in-Chief of this journal.

Funding

Not applicable.

Author contribution

Drafting the article: Fathi Mraihi, Jihene Basly, Amani Mezni.

Acquisition of data: Zeineb Ghali, Hafsi Montasar.

Revising the article: Fathi Mraihi, Jihene Basly, Chelli Dalenda.

All the authors have read and agreed to the final manuscript.

Guarantor

Mraihi Fathi.

Research registration number

NA.

Conflict of interest statement

The authors declared they have no conflicts of interest.

Data availability

Materials described in the manuscript, including all relevant raw data, will be available to any scientist wishing to use them for non-commercial purposes.