Spectrum of Cantrell’s Pentalogy: Case Series From a Single Tertiary Care Center and Review of the Literature

Abstract

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.

Left chest wall deformity, dextrocardia, and diaphragmatic hernia

“…The fleshy outgrowth on the chest wall is, however, an unusual finding, and has not been reported in the literature as part of any of the above syndromes. A hypothetical possibility is that the outgrowth may be part of supernumerary breast tissue that failed to regress from the embryonic mammary ridge or a dermatological manifestation of Pentalogy of Cantrell (Unal et al, 2009;Mallula et al, 2013).…”

Prenatal Diagnosis of Cantrell’s Pentalogy Associated with Agenesis of Left Limb in a Twin Pregnancy

“…The optimal management strategies and prognostic indices for neonates remain to be established. Generally, most of the fetuses associated with ectopia cordis indicate poor prognosis, whereas ectopia cordis in partial association with incomplete presentation of PC is likely more favorable [13]. …”

When Closure Fails: What the Radiologist Needs to Know About the Embryology, Anatomy, and Prenatal Imaging of Ventral Body Wall Defects

“…54 PC also may be associated with chromosomal anomalies (including trisomies 13 and 18 syndromes and Turner syndrome), other central nervous system and craniofacial malformations (such as cleft lip or palate, encephalocele, anencephaly, meningocele, hydrocephalus, and exencephaly), thoracolumbar spina bifida, Wolff-Parkinson-White syndrome, limb defects (clubbed foot, absence of tibia and radius, and hypodactyly), and abdominal organ defects (agenesis of the gallbladder and polysplenia). 20,45,52 Prenatal imaging findings are variable but usually show omphalocele, ectopic heart, and pericardial or pleural effusions; diaphragmatic defects may be difficult to characterize on MRI. 20 Although fetal MRI is useful for better assessing the malformations involving the abdominal wall and heart position, association with fetal echocardiography may be useful for characterizing intracardiac structural defects, thus enabling a more accurate diagnosis.…”

“…9B), therefore, might or might not be associated with this syndrome. 20,42,46,47,52 Often the full spectrum of the PC is not complete 45 and therefore the following classification was proposed: complete syndrome (all 5 defects present), probable syndrome (4 defects present, including midline supraumbilical abdominal wall and structural intracardiac abnormalities), and incomplete syndrome (multiple combinations of abnormalities, although necessarily including a sternal abnormality). 53 Almost all patients have ventricular septal defects; other common intracardiac defects include atrial septal defect (53%), valvular or infundibular pulmonary stenosis (33%), tetralogy of Fallot (20%), and left ventricular diverticulum (20%).…”