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

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Cardiology

Background:

• Pentalogy of Cantrell (CS) is a rare congenital disorder characterized by a specific constellation of midline defects.
• These defects include an abdominal wall anomaly, sternal cleft, diaphragmatic defect, pericardial defect with communication to the peritoneal cavity, and intracardiac anomalies.
• Type 2 CS involves partial ectopia cordis.

Observation:

• A male newborn diagnosed with type 2 Pentalogy of Cantrell via prenatal ultrasonography.
• Clinical presentation included an anterior abdominal wall defect with extrathoracic heart displacement and sagittal suture diastasis.
• Postnatal imaging revealed complex intracardiac anomalies, including tricuspid atresia, ventricular septal defect, subpulmonary stenosis, and pulmonary artery hypoplasia.

Findings:

• The heart exhibited partial extrathoracic and extra-abdominal displacement, with an hourglass deformity due to narrowing at the displacement site.
• Computed tomography identified additional anomalies: left ventricular apical aneurysmal dilatation, hypoplastic right ventricle, hepatic lobe herniation adjacent to a left ventricular diverticulum, and adrenal hematoma.
• The newborn's critical condition precluded immediate surgical intervention.

Implications:

• This case underscores the severe spectrum of Pentalogy of Cantrell and the challenges in managing complex congenital anomalies.
• Prenatal diagnosis is crucial for planning and managing affected newborns.
• The intricate anatomical abnormalities present significant surgical and medical management hurdles, as demonstrated by the unfavorable outcome in this case.