Isolated congenital absence of the pericardium: clinical presentation, diagnosis, and management.

Background: Congenital absence of the pericardium (CAP) is a rare clinical entity.

Methods: We identified from the two hospital databases all patients with isolated CAP, reviewed their data, and invited them for prospective clinical evaluation with electrocardiography, chest x-ray findings (CXR), echocardiography, and magnetic resonance imaging (MRI).

Results: Ten patients (3 males, 7 females) presented at a median age of 21 years (range, 2-53 years) with paroxysmal stabbing chest pain, largely nonexertional (9), and heart murmur with an abnormal CXR (1). Three patients had partial and 7 had complete CAP (all 7 had marked lateral displacement of the cardiac apex). CXR combined with MRI were key to establishing the diagnosis; a "tongue" of lung tissue interposing between the main pulmonary artery and aorta was the most consistent diagnostic feature. Four patients underwent pericardioplasty, 3 for debilitating symptoms and 1 for left atrial appendage herniation, followed by improvement or resolution of symptoms. At a mean of 10.5 years from presentation all patients were alive. No complications were seen in the nonsurgical group.

Conclusions: Isolated CAP has a common presentation pattern with periodic stabbing chest pain mimicking coronary artery disease. CXR and MRI are required for definitive diagnosis. Symptomatic patients with the complete form may benefit from pericardioplasty.