Pentalogy of Cantrell: A Narrative Review of Aetiopathogenesis, Diagnostic Advances and Contemporary Management Strategies

Pentalogy of Cantrell (POC) is known as an extremely rare congenital disorder which is characterised by a distinctive constellation of five midline defects involving anterior abdominal wall, lower sternum, anterior diaphragm, diaphragmatic pericardium and heart, often accompanied by complex intracardiac anomalies. The clinical spectrum of POC usually ranges from complete forms exhibiting all five defects to incomplete type having partial expression thus contributing towards significant heterogeneity in presentation and outcomes. The present narrative review article summarises current understanding of embryologic and molecular basis of POC thereby highlighting the role of early mesodermal developmental failure during the first weeks of gestation. Advances in prenatal diagnosis using ultrasonography, foetal echocardiography, Three-Dimensional (3D) imaging as well as foetal magnetic resonance imaging have improved early detection, anatomical delineation along with prognostic assessment. Postnatal imaging supports into comprehensive evaluation and surgical planning of POC cases. Management of POC thus remains primarily surgical while it also needs a coordinated multidisciplinary approach inclusive of prenatal counselling, neonatal intensive care, cardiology and paediatric surgery. Both single-stage as well as staged surgical strategies are used based upon disease severity, patient stability along with emerging perinatal and foetal interventions offering potential benefits in selected cases. Despite improvements in diagnostic as well as therapeutic modalities, prognosis remains variable which is closely linked to the severity of intracardiac and thoraco-abdominal defects. Continued research focusing on genetic mechanisms, long-term outcomes, standardised management protocols is said to be an essential aspect to optimise care and improve survival, quality of life in patients having POC.