Does echocardiography play a role in the clinical diagnosis of congenital absence of pericardium? A case presentation and a systematic review

Abstract

Congenital absence of pericardium is an uncommon cardiac defect with variable clinical presentations. The detection of this malformation is clinically relevant because of potential complications such as fatal myocardial strangulation, myocardial ischemia and sudden death. Physical examination, chest radiograph and ECG are not helpful for the diagnosis. Echocardiography may accurately identify abnormalities in myocardial wall motion and in cardiac silhouette that may strongly suggest the diagnosis that is confirmed by magnetic resonance imaging (MRI) or computed tomography scan. A case presentation and a review of the literature with emphasis on the role of echocardiography are presented.

ST segment elevation myocardial infarction of a rare aetiology: an unexpected diagnosis

“…MRI is the gold standard test to diagnose this malformation 9. But structural evaluation by three-dimensional CT imaging, as in our case, proved obviously diagnostic.…”

“…The differentials of such a condition would be a left ventricular aneurysm, cardiac tumour, pericardial tumour, thoracic tumour, etc. MRI represents the gold standard test to diagnose this malformation, with the benefits, over CT, of not needing intravenous contrast administration and not subjecting the patient to radiation exposure 9. In our case, reconstructed 3D CT imaging was conducted for structural evaluation, which clearly diagnosed this condition.…”

“…Physical examination, ECG and chest radiography do not show distinct pathognomonic features. A few case reports have suggested that echocardiography can be the first imaging modality to show unusual findings 9 10. Cardiac hypermobility, a ‘teardrop’ appearance, paradoxical or flat systolic motion of the inter ventricular septum, severe tricuspid regurgitation and right ventricular dilation, are typical for complete absence of pericardium, whereas dilation of the left atrium and regional bulging of the left ventricle is frequently reported in partial absence of the pericardium 9…”

Echocardiographic diagnosis of total or left congenital pericardial absence with positional change

“…Congenital absence of the pericardium (CAP) is a well-described but rare clinical condition with fewer than 400 reported cases worldwide 1. Although most patients with CAP are asymptomatic, some experience chest pain, dyspnoea, palpitations, syncope, arrhythmia and even sudden death due to fatal myocardial strangulation or herniation 2 3.…”

Congenital Absence of the Pericardium

“…Defective development of the pleuropericardial membranes, which fuse at the midline and separate the pericardial and pleural cavities, causes complete or partial absence of the pericardium and partial defect is more common than complete defect 2). Patients with absence of the pericardium are most often asymptomatic, but they sometimes present with various clinical manifestations 3).…”