Pericardial agenesis is a rare condition where there is the absence of the pericardium to varying degrees. If it is only a small portions of the pericardium that is absent it is known as a pericardial defect.
According to a surgical and pathological series, the prevalence (inclusive of cases with other cardiopulmonary anomalies) is approximately 0.002-0.004% 13.
Most patients are asymptomatic although, in some cases, the anomaly can result in mechanical impairment of cardiac function and even death. Symptomatic patients may present with fatigue, pain (especially non-exertional paroxysmal stabbing chest pain 6) or cardiac conduction abnormalities 9.
Pericardial agenesis occurs from a premature atrophy of the common cardinal vein. Agenesis can be complete or partial. In partial cases, the absence of the left hemipericardium is more common and results in rotation of the heart towards the left.
Associated congenital abnormalities include:
- congenital cardiac abnormalities 11
- bronchogenic cyst
- pulmonary sequestration
Chest radiographic findings are usually subtle and non-specific. Features may include:
- apparent elevation of the cardiac apex
- right cardiac border might be indistinct due to leftward displacement and rotation of the heart
- prominent pulmonary artery segment (PA): both the medial and the lateral borders of the main PA might be seen more clearly as a result of the lack of pericardial reflection between the aorta and the PA
- lucency caused by the interposition of the lung between the aorta and main pulmonary artery segment
- the cardiophrenic space is increased on the frontal chest radiograph
- may show the absence of the thin pericardial lining around the heart
- may demonstrate excessive levoposition of the heart
- the lateral and posterior portions of the pericardium may be difficult to visualise on CT
- normally, the aortopulmonary window is covered by pericardium and contains some fat. In the absence of the pericardium, lung tissue can be detected between the aorta and the main segment of the pulmonary artery.
- occasionally, there is bulging of the left atrial appendage through the defect
- may also be useful to assess for certain complication
Cardiac MRI is probably the best method for assessment.
Described features include:
- loss of direct visualisation of the pericardium - low signal on T2
- levoposition of the heart
- increased cardiac mobility (e.g. excessive apical motion 11) - on cine sequences
- interposition of lung tissue
- between the heart and other intrathoracic structures 5
- a "tongue" of lung tissue interposing between the main pulmonary artery and aorta - this is considered a very specific sign 4,13
- between the diaphragm and the base of the heart
MRI is also useful to assess for associated complications.
Recognised but uncommon complications include:
- cardiac valvular insufficiency
- herniation (in cases with partial agenesis 7) with incarceration of cardiac tissue, which includes atrial appendage entrapment
- compression of the left coronary artery secondary to herniation 1
Treatment and prognosis
Asymptomatic isolated agenesis usually requires no treatment 10. Symptomatic patients who have the complete form may benefit from a pericardioplasty 4.
- 1. Kastler B, Ali S, Roy C et-al. [Magnetic resonance imaging in the diagnosis of agenesis of the pericardium]. Ann Cardiol Angeiol (Paris). 1989;38 (3): 151-3. Pubmed citation
- 2. Hotouras A, Shahin Y. Pericardial agenesis: a rare cause of chest pain. Postgrad Med J. 2010;86 (1016): 380-1. Postgrad Med J (full text) - doi:10.1136/pgmj.2009.096164 - Pubmed citation
- 3. Van Son JA, Danielson GK, Schaff HV et-al. Congenital partial and complete absence of the pericardium. Mayo Clin. Proc. 1993;68 (8): 743-7. Pubmed citation
- 4. Gatzoulis MA, Munk MD, Merchant N et-al. Isolated congenital absence of the pericardium: clinical presentation, diagnosis, and management. Ann. Thorac. Surg. 2000;69 (4): 1209-15. Pubmed citation
- 5. Garnier F, Eicher JC, Philip JL et-al. Congenital complete absence of the left pericardium: a rare cause of chest pain or pseudo-right heart overload. Clin Cardiol. 2010;33 (2): E52-7. Clin Cardiol (abstract) - doi:10.1002/clc.20607 - Pubmed citation
- 6. Abbas AE, Appleton CP, Liu PT et-al. Congenital absence of the pericardium: case presentation and review of literature. Int. J. Cardiol. 2005;98 (1): 21-5. doi:10.1016/j.ijcard.2003.10.021 - Pubmed citation
- 7. Yamano T, Sawada T, Sakamoto K et-al. Magnetic resonance imaging differentiated partial from complete absence of the left pericardium in a case of leftward displacement of the heart. Circ. J. 2004;68 (4): 385-8. Pubmed citation
- 8. Gehlmann HR, Van Ingen GJ. Symptomatic congenital complete absence of the left pericardium. Case report and review of the literature. Eur. Heart J. 1989;10 (7): 670-5. Pubmed citation
- 9. Di Pasquale G, Ruffini M, Piolanti S et-al. Congenital absence of pericardium as unusual cause of T wave abnormalities in a young athlete. Clin Cardiol. 2000;15 (11): 859-61. Pubmed citation
- 10 .Murat A, Artas H, Yilmaz E et-al. Isolated congenital absence of the pericardium. Pediatr Cardiol. 2008;29 (4): 862-4. Pediatr Cardiol (full text) - doi:10.1007/s00246-008-9212-5 - Pubmed citation
- 11. Peebles CR, Shambrook JS, Harden SP. Pericardial disease-anatomy and function. Br J Radiol. 2011;84 Spec No 3 (Special Issue 3): S324-37. Br J Radiol (full text) - doi:10.1259/bjr/16168253 - Free text at pubmed - Pubmed citation
- 12. Nakashima D, Nakaboh A, Shinozuka T et-al. A congenital absence of the pericardium diagnosed by echocardiography. Int. J. Cardiol. 2007;118 (3): e89-91. doi:10.1016/j.ijcard.2007.01.036 - Pubmed citation
- 13. Psychidis-Papakyritsis P, De Roos A, Kroft LJ. Functional MRI of congenital absence of the pericardium. AJR Am J Roentgenol. 2007;189 (6): W312-4. doi:10.2214/AJR.05.1655 - Pubmed citation
- 14. Faridah Y, Julsrud PR. Congenital absence of pericardium revisited. Int J Cardiovasc Imaging. 2003;18 (1): 67-73. Pubmed citation
- 15. Pineda V, Andreu J, Cáceres J et-al. Lesions of the cardiophrenic space: findings at cross-sectional imaging. Radiographics. 27 (1): 19-32. doi:10.1148/rg.271065089 - Pubmed citation
- 16. Wang ZJ, Reddy GP, Gotway MB et-al. CT and MR imaging of pericardial disease. Radiographics. 2003;23 Spec No : S167-80. doi:10.1148/rg.23si035504 - Pubmed citation
- 17. Grainger & Allison's Diagnostic Radiology: 2-Volume Set, 6e. Churchill Livingstone. ISBN:0702042951. Read it at Google Books - Find it at Amazon