Congenital Pericardial Agenesis: An Innocent Finding or Clinically Significant Condition? A Case Series and Literature Review.

Congenital pericardial agenesis (CPA) is a rare anomaly that is often considered a benign incidental finding but may present with nonspecific symptoms and mimic structural heart disease. Its clinical relevance remains incompletely defined, particularly regarding the distinction between a harmless anatomical variant and a clinically significant condition. We present a retrospective two-center case series of four patients with imaging-confirmed CPA, combined with a narrative review of the literature aiming to evaluate the clinical spectrum, diagnostic challenges, and management implications of CPA. The clinical presentation of our patients was heterogeneous, ranging from incidental findings to chest discomfort and dyspnea. In all cases, initial echocardiography suggested alternative diagnoses, including right ventricular cardiomyopathy, atrial septal defect, or pericardial disease, leading to diagnostic uncertainty. Definitive diagnosis was established using multimodality imaging, particularly cardiac magnetic resonance and computed tomography, which demonstrated characteristic features such as cardiac levoposition and interposition of lung parenchyma. Three patients had complete left pericardial agenesis and one had a partial defect. All patients were managed conservatively, without complications during follow-up.