Pericardial agenesis: a case report of a rare congenital heart disease

Background: Pericardial agenesis is a rare congenital heart disease characterized by a variable clinical presentation. Case summary: A 32-year-old man was sent by an occupational health physician to our health care centre because of pathological electrocardiogram (ECG). On transthoracic echocardiogram, we had some difficulty to obtain a good quality of four-chamber apical view that was shifted upper and laterally towards the left anterior axillary line. Nonetheless, an abnormal diastolic expansion of the apex of the left ventricle (LV) that had an otherwise normal systolic function was detected. A chest X-ray confirmed the leftward shift of the heart, with the elongation of the left border of cardiac silhouette and cardiac MRI, finally revealed the absence of left-sided pericardium associated with a leftward dislocation of the heart and a dysmorphism of the LV apex that appeared rounded and curved. The non-invasive work-up was completed with 48 h long Holter ECG that was unremarkable. The exercise test was also negative for both inducible myocardial ischaemia and arrhythmias. Patient was scheduled for loop-recorder implantation, and a 6-month clinical follow-up was advised. Discussion: Pericardial agenesis is a rare congenital heart disease associated with an increased risk of cardiac arrhythmias and type A aortic dissection, however its clinical course could be also completely unremarkable. The diagnosis is challenging, and cardiac MRI remains the gold standard imaging modality. In complete left-sided and asymptomatic forms, no treatment is needed. Prognosis is not well established due to both the rarity of disease and extreme variability of clinical presentation.