Pentalogy of Cantrell (POC) is an extremely rare and complex congenital anomaly characterized by combination of malformations involving the heart, pericardium, diaphragm, sternum, and ventral abdominal wall(1,4). It is estimated to occur in approximately 5.5 per million births with a male to female ratio of 2:1(2,3). It was first reported by James R Cantrell in 1958. The exact cause of POC remains unclear, and most cases reported in literature have occurred sporadically. Several cases of Pentalogy of Cantrell have been linked to chromosomal abnormalities, including Trisomy 21, Trisomy 18, and Turner’s Syndrome(5). Additionally, a genetic mutation identified in few patients with Pentalogy of Cantrell is the duplication of ALDH1A2. It is important for a radiologist to be aware of its wide spectrum of presentation on ultrasound in first trimester of gestation. Prenatal ultrasound is currently the best method available to diagnose Pentology of Cantrell and is available in 2-dimensional (2D), 3-dimensional (3D), and 4-dimensional (4D) modalities. Fetal MRI with prenatal echocardiography enables optimal evaluation of cases with this syndrome. While these modalities may enhance prognostic assessment, they are essential for preoperative planning after the first trimester and for determining pregnancy continuation(7). In this paper, we report a rare case of incomplete Pentology of Cantrell (POC) and the importance of diagnosis and the wide range of anomalies associated with this syndrome. The case was diagnosed by antenatal ultrasound examination and confirmed after termination of pregnancy. Informed consent was obtained from the patient for the publication of this case report.
