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

doi:10.1016/S0003-4975(99)01552-0

The Annals of Thoracic Surgery

Volume 69, Issue 4, April 2000, Pages 1209-1215

https://doi.org/10.1016/S0003-4975(99)01552-0 Get rights and content

Abstract

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.

Section snippets

Patients and methods

Departmental databases were interrogated to identify all patients with a diagnosis of CAP seen either at the UTCCCA, Toronto Hospital, or at the Division of Cardiology, The Hospital for Sick Children, Toronto. Patients who had been diagnosed incidentally during operation or postmortem and patients with other congenital cardiac disease were excluded. Demographics, available clinical, electrocardiographic, radiographic, and surgical data were reviewed and recorded. Patients with a confirmed

Results

Ten patients (3 males, 7 females) with a diagnosis of isolated CAP fulfilling entry criteria were identified (Table 1). Their median age at presentation was 21 years (range, 2–53 years).

Comment

This clinical series of isolated CAP demonstrates a common presentation pattern with (1) periodic stabbing chest pain mimicking coronary artery disease and (2) characteristic radiographic and MRI features permitting timely diagnosis. Symptoms may be debilitating, and for these patients surgical reconstruction of the absent pericardium is safe and may lead to symptomatic improvement.

CAP has been discovered inadvertently during postmortem and thoracotomy for more than 400 years 1, 2. Isolated and

Acknowledgements

We thank our colleagues from The Hospital for Sick Children, Toronto, for their continuing support of our program. We acknowledge Dr Catherine Kells and Dr Jonathan Howlett for assisting us with follow-up data.

References (23)

J.A. Van Son et al.
Congenital partial and complete absence of the pericardium
Mayo Clin Proc
(1993)
R.G. Fosburg et al.
Congenital partial absence of the pericardium
Ann Thorac Surg
(1968)
W.K. Nasser
Congenital absence of the left pericardium
Am J Cardiol
(1970)
E. Robin et al.
Strangulation of the left atrial appendage through a congenital partial pericardial defect
Chest
(1975)
A.C. Hering et al.
Congenital deficiency of the pericardium
J Thorac Cardiovasc Surg
(1960)
H.W. Wallace et al.
Angina pectoris associated with a pericardial defect
J Thorac Cardiovasc Surg
(1971)
J.E. Chapman et al.
Congenital absence of pericardiuman unusual cause of atypical angina
Ann Thorac Surg
(1988)
H.M. Connolly et al.
Congenital absence of the pericardiumechocardiography as a diagnostic tool
J Am Soc Echocardiogr
(1995)
W.K. Nasser
Congenital diseases of the pericardium
Cardiovasc Clin
(1976)
Columbus MR. De re anatomica. Vol 15. Beurlaque N, ed. Venice...

H. Southworth et al.

Congenital defects of the pericardium

Arch Intern Med

(1938)

Cited by (148)

Congenital Pericardial Agenesis presenting as non-specific chest pain: A Case Report
2022, Radiology Case Reports
Congenital absence of pericardium is an exceedingly rare condition with a prevalence of 0.002%-0.004%. Due to its rarity and absence of association with any specific clinical examination finding, the diagnosis may be challenging. Due to the absence of symptoms and clinical awareness, pericardial agenesis is commonly misdiagnosed. It is important to consider this as a differential diagnosis of exertional chest pains. We report the case of a 9-year-old boy who attended our institution for non-specific but frequent symptoms and was diagnosed with congenital complete absence of the pericardium. The rarity of the condition can hinder timely diagnosis, as a physician or radiologist may never encounter a single case in their lifetime.
Cardiac herniation: A practical review in the emergency setting
2022, American Journal of Emergency Medicine
Albeit described since 1948, cardiac herniations still represent an under-recognized clinical entity in the general population, due to their difficult diagnostic detection and to a limited knowledge in clinical practice. This paper aims to provide an updated overview focusing on definition, clinical presentation and diagnostic work-up of cardiac herniations, as well as on further findings concerning prognoses and available therapeutic options.
This narrative review was performed by following the standard methods of the Cochrane Collaboration and the PRISMA statement. A Pubmed search was conducted using the following keywords (in Title and/or Abstract): (“cardiac” OR “heart”) AND (“herniation” OR “hernia”). All available high quality resources containing information on epidemiology, etiopathogenesis, clinical findings, diagnostic tools and therapeutic strategies, were included in our search.
Causative agents, location and the degree of haemodynamic impairment were found to play a pivotal role in defining the patient's natural history and prognostic outcomes, and in detecting potential associated clinical conditions which may significantly impact on first line decision-making strategy.
Cardiac herniations remain a rare and life-threatening pathological injury, whose knowledge is still very limited in clinical practice. Clinicians should be aware of such a clinical entity and of its wide spectrum of clinical manifestations, particularly in high-risk subsets of patients, in order to provide the most appropriate decision-making strategy and timely therapeutic approach.
It's Never Too Late: Spotting Congenital Absence of the Pericardium in an Older Adult
2020, CJC Open
Citation Excerpt :
Consistent with our case, left complete CAP is most common1 with a male predominance.2 However, the median age at diagnosis is much younger (21 years4 and 48 years3 in 2 case series). Most patients are asymptomatic,1 with CAP being detected incidentally during imaging or surgery.2
A 75-year-old male with a cardiopulmonary history presented with chest pain and dyspnea. He was hypertensive. An electrocardiogram showed paced rhythm. A high-sensitivity test showed his troponin T level was minimally elevated. Coronary angiography results were unremarkable. Chest radiography revealed an elevated cardiac apex, previously attributed to cardiomegaly. Echocardiography revealed a teardrop shaped heart in a nonstandard apical window. Computed tomography confirmed congenital absence of the left pericardium. Challenges of recognizing a rare condition are highlighted. Congenital absence of the pericardium, an often benign but rarely catastrophic condition, can masquerade for decades before diagnosis, underlining the importance of clinical vigilance in evaluating common cardiac complaints.
Un homme de 75 ans qui avait des antécédents cardiopulmonaires a éprouvé une douleur thoracique et accusé une dyspnée. Il souffrait d’hypertension. Un électrocardiogramme a montré un rythme électro-entraîné. Le dosage de la troponine T hautement sensible a révélé des concentrations minimalement élevées. Les résultats de l’angiographie coronarienne étaient normaux. La radiographie pulmonaire a révélé un apex du cœur élevé, antérieurement attribué à la cardiomégalie. L’échocardiographie a révélé un cœur en forme de larme dans une fenêtre apicale non standard. La tomodensitométrie a permis de confirmer l’absence congénitale du péricarde gauche. Nous présentons les enjeux liés à l’identification d’une maladie rare. Puisque l’absence congénitale du péricarde, une anomalie souvent bénigne, mais rarement catastrophique, peut demeurer dissimulée durant des décennies avant le diagnostic, nous soulignons l’importance de la vigilance clinique dans l’évaluation des symptômes cardiaques courants.
Congenital partial pericardial defect confirmed based on spontaneous pneumothorax: A case report and literature review
2020, International Journal of Surgery Case Reports
Citation Excerpt :
The main purpose of surgery for a pericardial defect is to prevent cardiac herniation and strangulation. Patients with complete or large absence of the pericardium, which allows the heart to move back smoothly into the cardiac space, usually need no interventional treatment and show favorable prognosis [6]. Small-to-moderate-sized defects should be considered for surgical treatment because of the possibility of ventricle or atrial appendage strangulation [2,5].
Congenital pericardial defects are rare but can cause fatal complications. Most cases are asymptomatic and incidentally detected during a thoracic surgery or autopsy. We report a case of a partial pericardial defect confirmed based on spontaneous pneumothorax.
A 16-year-old boy with left spontaneous pneumothorax showed pneumopericardium on chest X-ray. Chest computed tomography revealed a partial pericardial defect. Video-assisted thoracoscopic surgery was performed, and a small pericardial defect was confirmed at the level of the upper pulmonary hilum. We did not reconstruct the defect because of the improbability of cardiac herniation.
Pneumopericardium combined with pneumothorax suggests the existence of a pericardial foramen. Partial pericardial defects could cause cardiac herniation or strangulation, and pneumothorax may worsen the protruding of the heart. Video-assisted thoracic surgery is an effective method to prevent the recurrence of pneumothorax and determine whether reconstruction of the defect is required.
Video-assisted thoracic surgery should be performed in the case of a pericardial defect combined with pneumothorax.
Pericardial Disease
2019, Essential Echocardiography: A Companion to Braunwald's Heart Disease
The pericardium is a thin-walled structure composed of two layers, a serous visceral layer (epicardium) and a fibrous parietal layer, both of which surround and protect the heart. Between these layers, up to 50 mL of pericardial fluid normally cushion the heart while the pericardium serves as a barrier to inflammation and infection. Limited epidemiologic data are available for the incidence and prevalence of pericardial disease. Depending on the clinical setting, the etiology of pericardial disease may be attributed to infection, autoimmune, postmyocardial infarction, malignant, metabolic, traumatic, drug-related, congenital, or iatrogenic causes. Transthoracic echocardiography is the first line noninvasive test of choice in patients with suspected pericardial disease. Although the pericardium can be assessed with M-mode, two-dimensional, or three-dimensional echocardiography, two-dimensional echocardiography is most frequently used for assessing pericardial effusions and their hemodynamic significance and also serves as the most cost-effective imaging modality. This chapter reviews the echocardiographic evaluation of the pericardium in various pericardial syndromes: pericardial effusion, pericarditis, pericardial constriction, and other pericardial disorders.
Congenital Abnormalities of the Pericardium
2017, Cardiology Clinics
Citation Excerpt :
In partial defects, chest pain can be due to ischemia from cardiac herniation or pressure from the rim of remaining pericardial tissue.6,11,13 Dyspnea and trepopnea (dyspnea while in the lateral decubitus position on 1 side but not the other) have also been reported and may result from compression of the lower left pulmonary vein between the left atrium and the descending aorta.6,20 Other presenting symptoms may include palpitations, dizziness, and syncope.

View all citing articles on Scopus

View full text

ORIGINAL ARTICLES: CARDIOVASCULARIsolated congenital absence of the pericardium: clinical presentation, diagnosis, and management

Abstract

Section snippets

Patients and methods

Results

Comment

Acknowledgements

Mayo Clin Proc

Ann Thorac Surg

Am J Cardiol

Chest

J Thorac Cardiovasc Surg

J Thorac Cardiovasc Surg

Ann Thorac Surg

J Am Soc Echocardiogr

Congenital diseases of the pericardium

Cardiovasc Clin

Congenital defects of the pericardium

Arch Intern Med

ORIGINAL ARTICLES: CARDIOVASCULAR
Isolated congenital absence of the pericardium: clinical presentation, diagnosis, and management