Pentalogy of Cantrell

BACKGROUND: Pentalogy of Cantrell (PC) is a rare congenital syndrome defined by 5 midline structural defects involving the heart, sternum, diaphragm, pericardium, and abdominal wall. Adult survival is exceptional, particularly in cases associated with ectopia cordis (EC). CASE SUMMARY: A 29-year-old asymptomatic man with ectopia cordis was evaluated using multimodal cardiac imaging, which demonstrated sternal, diaphragmatic, and pericardial defects consistent with PC, along with a large ventricular septal defect and patent ductus arteriosus causing pulmonary hypertension. Surgical correction was declined, and medical therapy was indicated with clinical stability. DISCUSSION: Comprehensive multimodal imaging allows accurate anatomic characterization and functional assessment of complex congenital malformations, while adult presentation underscores the variable spectrum of PC and the potential for survival in partial or less severe forms. TAKE-HOME MESSAGES: PC rarely presents in adulthood. Multimodal imaging is essential for diagnosis and management. Survival depends on less severe intracardiac and thoracoabdominal defects.