Cantrell Syndrome—A Rare Complex Congenital Anomaly: A Case Report and Literature Review

Abstract

Cantrell syndrome (CS) or pentalogy of Cantrell is defined as a rare condition involving a midline anterior abdominal wall defect, a distal sternal cleft, a defect of the anterior diaphragm, and a defect of the apical pericardium with pericardio-peritoneal communication, as well as intracardiac anomalies. We report the case of a male newborn with type 2 CS diagnosed during intrauterine life based on ultrasonographic evaluation. Clinical examination at birth revealed an abdominal wall defect with extrathoracic displacement of the heart and a diastasis of the sagittal suture. Postnatal echocardiography revealed tricuspid atresia, partial extrathoracic and extra-abdominal displacement of the heart and liver, a large ventricular septal defect, severe subpulmonary stenosis, hypoplasia of the pulmonary artery, and a large hourglass-shaped left ventricle secondary to narrowing of the heart at the level of its extrathoracic displacement. Computed tomography showed additional abnormalities including increased left ventricular volume with extrathoracic apical aneurysmal dilatation below the xiphoid process at the level of anterior abdominal wall, a hypoplastic right ventricle, partial transparietal herniation of the left hepatic lobe adjacent to a left ventricular diverticulum, and an adrenal hematoma. The newborn received intensive medical management during his first week of life; however, surgical management had to be postponed owing to his unstable condition. Eventually, it was performed on the 14th day of life, but unfortunately, the newborn died shortly after the procedure.

Complete and Incomplete Pentalogy of Cantrell

“…It has also been called Cantrell syndrome or deformity, thoraco-abdominal syndrome, and X-linked midline defect. The incidence of occurrence is estimated in the literature to be from 1 in 65,000 to 1 in 200,000 live births [2,3,4].…”

Incomplete pentalogy of Cantrell in a Border terrier puppy

“…Cantrell’s syndrome or pentalogy have been well described in humans, with an estimated prevalence between 1:65 000 and 1:200 000,2 whereas, to the authors’ knowledge, an incomplete form of the syndrome has been reported in dogs and cats rarely3–10; a complete pentalogy has only been reported in one litter of puppies 11. Therefore, the true prevalence in animals is unknown due to the rare nature of this syndrome.…”

“…The prognosis for human patients with Cantrell’s pentalogy depends mainly on the severity and complexity of the cardiac anomalies and despite considerable advances in the management of this syndrome, survival rates are fairly low 2 14 16 17…”

The Pentalogy of Cantrell: A Case Report

“…The incidence is reported increased with the presence of trisomy 13 and 18 [20,21]. Mutation in the Porcupine homolog gene was reported in a patient with PC and focal dermal hypoplasia and in those with the limb-body wall complex syndrome [22,23] Porcupine, an O-acyltransferase involved in the acylation of Wnt ligands, is located on the X chromosome, and its deletion in mice is known to cause focal dermal hypoplasia and developmental anomalies of it's body wall [24] However, it is unclear if a mutation in Porcupine also causes PC [25]. Most cases so far were described sporadic, but in some families, an X-linked pathway has been suggested and in some cases alterations in the region, Xq25-q26.1 had been found [7].…”

“…Prenatal imaging studies are crucial for prenatal counseling and adequate postnatal therapeutic planning [25]. The diagnosis of PC may be established by fetal ultrasonography during the first trimester of the pregnancy as early as 10 weeks of pregnancy [26,27].…”