|CASE IN POINT: PEDIATRIC CARDIOLOGY
|Year : 2015 | Volume
| Issue : 2 | Page : 91-94
Pentalogy of Cantrell
Suhas S Shedmake
Department of Radio Diagnosis, K.J. Somaiya Medical College and Research Centre, Sion, Mumbai, Maharashtra, India
|Date of Web Publication||28-Dec-2015|
Suhas S Shedmake
Department of Radiology, K.J Somaiya Medical College and Research Centre, Everard Nagar, Sion, Mumbai - 400 022, Maharashtra
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Shedmake SS. Pentalogy of Cantrell. Astrocyte 2015;2:91-4
Pentalogy of Cantrell was first described by James R Cantrell in 1958, the syndrome occurs sporadically with variable degrees of expression. Its estimated prevalence varies from 1 in 65,000 to 1 in 200,000 births. Its incidence is estimated at approximately 6 per million live births. Proposed pathogenesis involves a defect in embryogenesis between 14 and 18 days after conception, when the splanchnic and somatic mesoderm is dividing. This case report has been submitted for two main reasons: One that it is a rare syndrome and the other to highlight the importance of performing second trimester anomaly scans.
A 19-year-old married female [G1P0L0A0] with no significant past history, came to Obstetrics and Gynecology OPD at K.J Somaiya Medical College and Research Centre (KJSMC and RC), Sion, Mumbai for her first prenatal check-up. There was no family history of consanguinity or congenital anomalies. Her general physical examination revealed pulse of 90 beats/min, which was regular and adequate in volume; her blood pressure was 110/70 mmHg. Her hemoglobin level was 9.9 g/dl. She was negative for HIV and HBsAg. Screening for TORCH infections was not done. She was advised routine USG and Anomaly scan, which was performed on Philips HD 7 and Toshiba-Nemio equipments. She was approximately 22 weeks 1 day by gestation as per her LMP, whereas as per USG, gestational age was approximately 16 weeks 4 days.
USG and Color Doppler showed presence of a large sac with herniated heart, liver, spleen, and few bowel loops, a defect in the anterior abdominal wall, hydrocephalus, severe scoliosis of spine along with its abnormal widening, a 2-vessel umbilical cord, direct insertion of umbilical cord onto the sac, and bilateral clubfoot (congenital talipes equinovarus) [Figure 1],[Figure 2],[Figure 3],[Figure 4],[Figure 5],[Figure 6],[Figure 7],[Figure 8]. Three dimensional (3D) rendering could not be done as this facility was not available in either of the equipments. According to multiple anomalies found, likely possibility of Pentalogy of Cantrell was given. Parents were informed about the poor prognosis of fetus. Fetal echocardiography could not be done as parents had not given consent for the same and opted for medical termination of pregnancy (MTP). Patient was told to get admitted in the Obstetrics and Gynecology ward for safe confinement (MTP). MTP was done electively after proper genetic counseling of the parents. Fetus died approximately 10 min after birth. Detailed fetal assessment ex-utero confirmed the USG findings [Figure 9]. Additional findings detected were presence of bilateral cleft lip and palate, which could not be diagnosed on 2D transabdominal scan [Figure 10]. Facility of fetal autopsy was not available at our institute.
|Figure 1: Large defect in the anterior abdominal wall with herniating heart, liver, spleen, and few bowel loops.|
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|Figure 4: Color Doppler showing two vessel umbilical cord and direct insertion of umbilical cord onto the sac.|
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|Figure 8: Abnormally widened spine; a large sac with herniated heart, liver, spleen, and few bowel loops.|
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| Discussion|| |
Pentalogy of Cantrell is a rare structural congenital syndrome with an estimated incidence of approximately 6 per million live births. It has many synonyms: Cantrell–Heller-syndrome, thoraco-abdominal ectopia cordis, pentalogy syndrome, peritoneopericardial diaphragmatic hernia. Pentalogy of Cantrell is said to result from a developmental failure of a segment of the lateral mesoderm at about 14th to 18th days of intrauterine life, with subsequent failure of development of septum transversum of the diaphragm and failure of the ventromedial migration of the paired mesodermal folds of the upper abdomen causing defects in the sternum, abdominal wall, anterior diaphragm, and pericardium., Possible mutagens, which may cause this syndrome, include environmental, pharmacological, chemical, radiological, etc.
Associated anomalies include cystic hygroma, craniofacial anomalies (cleft lip and/or palate, hydrocephalus, encephalocoele, anencephaly, cranioraschischis), trisomies (trisomy 13 and 18), vertebral anomalies, limb anomalies (unilateral/bilateral congenital talipes equinovarus). Intracardiac anomalies include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), pulmonary stenosis, and tetralogy of Fallot (TOF). Congenital defects of the sternum may vary from simple notching of the manubrium and irregularities in the shape of xiphoid process to the absence of the entire sternum. Abdominal wall defects include omphalocoele, diastasis recti, epigastric hernia, umbilical hernia, and combined defects. The most common abdominal wall defect is omphalocoele. Deficiencies of the diaphragmatic pericardium and the anterior diaphragm are common defects. Sometimes, they are too small to be detected. Cardiac lesions may vary widely. Cantrell etal. (1958) stated that congenital intracardiac anomalies are consistent elements of the pathology, with ventricular septum defect (VSD) in all cases (100%), atrial septum defect (ASD) in 53%, pulmonary stenosis in 33%, TOF in 20%, and left ventricular diverticulum in 20%. In VSD, the part contributed by prolongation from the endocardial cushion has been found to be deficient in maximum number of cases. Depending on the location of the protruding heart and extent of the abdominal wall defect, ectopia cordis can be divided into cervical, cervicothoracic, thoracic, thoraco-abdominal, and abdominal types, of which the most common type is the thoraco-abdominal type. Toyama described this rare syndrome in three classes: Class I – Exact diagnosis with all five defects present; Class II – Probable diagnosis with four defects (including intracardiac and abdominal wall defects) present; Class III – Incomplete diagnosis, with combination of defects where sternal defect is always present., The fetus in this case presented with features intermediate between class II and III. The thoraco-abdominal syndrome, including the pentalogy of Cantrell, is suggested to be an X-linked dominant disorder, mapped to Xq24-q27 gene.,,,
Diagnosis of the complete syndrome requires the five criteria as described by Cantrell, but incomplete variants exhibiting three or four features have been described. Presentation with four of five defects including an intracardiac lesion and ventral abdominal wall defect is regarded as a probable syndrome., All five defects plus additional abnormalities or more extensive involvement have been seen in severe cases. Toyama reported eight patients with the incomplete syndrome., Bhat et al. reported a case of incomplete pentalogy of Cantrell including absence of sternum, a large omphalocoele, and heart abnormalities and called this disorder Cantrell syndrome., Intrauterine diagnosis of this pentalogy is not possible before 12th week of gestation as herniation of bowel out of the abdomen is a normal event in fetal development during this time period. Both 2D and 3D obstetric USG are recommended but 3D USG is not necessary in the first trimester of pregnancy.,
3D visualization allows better understanding of the anatomical conditions.
The syndrome has been diagnosed prenatally, but as the defects range from subtle to severe; the ability to make USG diagnosis varies. Even at birth, the full extent of the syndrome may not be apparent, as the sternal defect may be minor and therefore, without true ectopia cordis. In our case, ectopia cordis was present and sternum was absent. Males are predominantly affected with a male: female ratio being 2:1 for fetuses affected with this syndrome. Differential diagnosis of fetal abdominal wall defect after 12th week is omphalocoele, pentalogy of Cantrell, and gastroschisis. If midline abdominal wall defect is present together with other abnormalities, especially ectopia cordis, one should consider pentalogy of Cantrell. Recurrence risk is not known.
Chromosomal analysis is recommended. Association with trisomy 18,13 and Turner syndrome have been reported. Careful imaging should be performed to rule out associated anomalies. Fetal echocardiography is indicated to evaluate the extent of any intracardiac abnormalities.
Usually, termination of pregnancy is advised if fetus is not viable. If fetus is viable, vaginal delivery is desirable since cesarean section has not been shown to improve the prognosis over vaginal delivery. After delivery, repair of the omphalocoele should not be delayed. Repair of the sternal, diaphragmatic, and pericardial defects can be attempted at the same time. Surgical correction is often difficult secondary to hypoplasia of the thoracic cage and inability to enclose the ectopic heart. Some affected infants have respiratory insufficiency secondary to pulmonary hypoplasia. Recognition and treatment of any intracardiac anomaly is important, as congenital heart disease is a source of major morbidity in infants surviving the neonatal period. If the baby survives for at least 3 months, then the repair of intracardiac anomaly is undertaken. In recent times, one-staged surgery is under trial.
Prognosis depends on the severity of intra- and extra-cardiac defects, pulmonary hypoplasia, extent of abdominal wall defect, cerebral anomalies, and diaphragmatic herniation. The mean survival rate without any interventional surgery is about 36 hours.
Differential diagnosis includes isolated ectopia cordis, amniotic band syndrome, isolated omphalocoele, gastroschisis, Beckwith–Weidemann syndrome, and body stalk anomaly. If midline abdominal wall defect is present together with other abnormalities, especially ectopic cordis, one should consider pentalogy of Cantrell.
Pentalogy of Cantrell is rarely reported in developing countries like India.
(1) Dr. Sudhir Kherde, Head of Department of Radiology, K.J Somaiya Medical College and Research Centre, Everard Nagar, Sion, Mumbai – 400 022. (2) OBGY Department, K.J Somaiya Medical College and Research Centre, Everard Nagar, Sion, Mumbai – 400 022, Maharashtra, India.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6], [Figure 7], [Figure 8], [Figure 9], [Figure 10]