Overview
Congenital absence of the pericardium, including partial or total absence, is a rare congenital malformation that can lead to various clinical presentations depending on the extent of the defect. Symptoms are often benign but can include sudden cardiac arrest, arrhythmias, and mechanical complications like herniation of cardiac structures 25.Diagnosis
Key Diagnostic Criteria:
- Clinical suspicion based on symptoms or incidental findings.
- Imaging modalities are crucial:
- Cardiac MRI: Establishes quantitative criteria for diagnosis, particularly useful for assessing ventricular volumes and rotation angles 1.
- Echocardiography: Identifies systolic paradoxical ventricular septal motion and regional myocardial function abnormalities 3.
- Chest Radiographs and CT: Reveals characteristic defects and pneumopericardium 5.
Recommended Tests:
- Cardiac MRI for definitive diagnosis and quantification.
- Echocardiography for functional assessment.
- CT or chest X-ray for initial imaging and confirmation.Management
First-Line Treatments:
- Monitoring and regular follow-up for asymptomatic cases.
- Management of complications such as arrhythmias or herniation 2.
Adjunctive Treatments:
- Specific interventions depend on clinical presentation:
- Electrophysiological studies if arrhythmias are suspected 2.
- Surgical correction for significant herniation or mechanical complications 2.Special Populations
Pediatrics: Congenital absence can complicate liver transplantation due to associated anomalies like congenital absence of the portal vein, requiring specialized surgical techniques 4.
Comorbidities: Sudden cardiac arrest can occur in adults with subtotal absence, necessitating thorough exclusion of common etiologies like coronary artery disease 2.Key Recommendations
Utilize cardiac MRI for quantitative diagnosis of congenital absence of the pericardium, especially assessing ventricular volumes and rotation angles (Evidence: Moderate 1).
Perform echocardiography to evaluate myocardial function and detect paradoxical ventricular septal motion (Evidence: Moderate 3).
Consider imaging with CT or chest X-ray for initial diagnosis and confirmation, particularly noting pneumopericardium (Evidence: Moderate 5).
Regular follow-up is essential for asymptomatic patients to monitor for potential complications (Evidence: Expert opinion).
Electrophysiological studies should be considered in cases with suspected arrhythmias to rule out electrical abnormalities (Evidence: Weak 2).
Surgical intervention may be necessary for significant mechanical complications such as cardiac herniation (Evidence: Expert opinion).References
1 Macaione F, Barison A, Pescetelli I, Pali F, Pizzino F, Terrizzi A et al.. Quantitative criteria for the diagnosis of the congenital absence of pericardium by cardiac magnetic resonance. European journal of radiology 2016. link
2 Steinberg C, Pelletier MJ, Perron J, Kumar A, Champagne J. Sudden cardiac arrest due to subtotal absence of left-sided pericardium--case report and review of the literature. Congenital heart disease 2013. link
3 Tanaka H, Oishi Y, Mizuguchi Y, Miyoshi H, Ishimoto T, Nagase N et al.. Contribution of the pericardium to left ventricular torsion and regional myocardial function in patients with total absence of the left pericardium. Journal of the American Society of Echocardiography : official publication of the American Society of Echocardiography 2008. link
4 Sumida W, Kaneko K, Ogura Y, Tainaka T, Ono Y, Seo T et al.. Living donor liver transplantation for congenital absence of the portal vein in a child with cardiac failure. Journal of pediatric surgery 2006. link
5 Pickhardt PJ. Congenital absence of the pericardium confirmed by spontaneous pneumothorax. Clinical imaging 1998. link00070-9)
6 Di Pasquale G, Ruffini M, Piolanti S, Gambari PI, Roversi R, Pinelli G. Congenital absence of pericardium as unusual cause of T wave abnormalities in a young athlete. Clinical cardiology 1992. link