• congenital defect
• echocardiography
• pericardium

• funding

• Cardiac MRI
• Chest X-ray
• Myocardial infarction
• Pericardial agenesis

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.

• Asian population
• Cardiac surgery
• Congenital pericardial defect
• Spontaneous pneumothorax
• VATS

• Congenital Abnormalities
• Congenitally Absent Pericardium
• Snoopy Sign

• Electrocardiography/methods
• Female
• Humans
• Incidental Findings
• Lung, Hyperlucent/complications
• Lung, Hyperlucent/physiopathology
• Pericarditis/complications
• Pericarditis/diagnosis
• Pericarditis/physiopathology
• Pericardium/abnormalities
• Radiography/methods
• Young Adult

• CT
• MR imaging
• Pericarditis
• Pericardium
• Radiology

Congenital absence of pericardium is a rare condition with electrocardiogram, chest X-ray, and echocardiographic findings which may mimic those of other cardiac conditions. We present a case of a 19-year-old asymptomatic female with incidental cardiomegaly on chest X-ray and electrocardiographic and echocardiographic changes, which meet the revised task force criteria for definite arrhythmogenic right ventricular cardiomyopathy but subsequently confirmed to have congenital partial absence of pericardium on cardiac magnetic resonance imaging.

We report the case of a 17-year-old girl who presented with an indentation in the right ventricle caused by an incomplete pericardium on preoperative 3-dimensional reconstructed computed tomography. She was to undergo surgery for a partial atrioventricular septal defect and secundum atrial septal defect. Preoperative electrocardiography revealed occasional premature ventricular beats. We found the absence of the left side of the pericardium intraoperatively, and this absence caused strangulation of the diaphragmatic surface of the right ventricle. After correcting the lesion, the patient’s rhythm disturbances improved.

• Incomplete pericardium
• Indentation of the right ventricle
• Ventricular premature beat

A 47-year-old Caucasian woman with a past medical history of multiple ablative procedures for supraventricular arrhythmias and pacemaker implantation presented with increasing shortness of breath. The initial working diagnosis of the team treating her was ablation-induced pulmonary stenosis, especially after the recording of increased flow velocities through the right lower pulmonary vein.

The patient was alert and oriented, but obviously dyspnoeic. The vital signs were normal. The physical examination revealed a soft cardiac systolic murmur and the lungs were clear on auscultation. The electrocardiogram showed a pacemaker rhythm. The echocardiogram showed borderline normal global systolic function of the left ventricle and severe mitral regurgitation. The transoesophageal echocardiogram confirmed the above findings and revealed increased velocities through the right lower pulmonary vein. The working diagnosis of ablation-induced pulmonary stenosis was reinforced by the cardiac CT angiography. The patient was subsequently referred for surgical intervention. The intra-operative findings were both unexpected and impressive: congenital partial absence of the pericardium was responsible for herniation of the right chambers into the pleural space. Mitral regurgitation was attributed to failure of coaptation due to the very short surface of the leaflets. Extensive external fibrosis around the pulmonary veins caused the pulmonary vein stenosis.

The final diagnosis of a partial pericardial defect causing torsion and distortion of the heart chambers was made only at surgery. The consistent finding of pulmonary vein stenosis in the non-invasive modalities and the past medical history of ablations initially misleadingly led us to the assumption that they were related.

• Pericardial defect
• pulmonary vein stenosis

Congenital absence of the pericardium is a rare abnormality that can be diagnosed by cardiac imaging procedures. A 49-year-old male needed medical attention due to the appearance of palpitation with a systolic murmur, and a notable aortic arch deviation was seen in the chest X-ray. In the echocardiogram, a poor echo window was detected. A cardiac magnetic resonance imaging (MRI) showed a rare concomitant anomaly of partial absence of the pericardium including a rare defect of the right-sided aortic arch. Using cardiac MRI, the pericardium can be easily visualized, and thus, its absence more easily detected, aiding appropriate clinical decision-making.

• Absence of pericardium
• cardiac magnetic resonance imaging
• vascular ring

• Congenital partial pericardial defect
• Intrauterine myocardial infarction

• Congenital absence of percurdium
• cardiac anomaly
• cardiac magnetic resonance

• Adult
• Chest Pain/etiology
• Diagnosis, Differential
• Humans
• Magnetic Resonance Angiography
• Male
• Pericardium/abnormalities

• congenital
• imaging
• pericardium

Though congenital pericardial absence is often asymptomatic, complications can be life threatening. To date, few short case reports, primarily from the pre-CT and MR era, describe congenital absence of the right pericardium. We present a more comprehensive discussion of the embryologic derangements causing such defects and offer an up-to-date review of characteristic radiologic findings. Recognition of characteristic imaging findings of congenital pericardial absence is crucial in guiding diagnosis and management.

• Absence
• congenital
• embryology
• imaging
• pericardium
• right pericardium

• Chest pain
• Computed tomography
• Congenital
• Echocardiography
• Pericardial defect

• Absence
• Ausência
• Image
• Imagem
• Magnetic resonance
• Multislice computed tomography
• Pericardium
• Pericárdio
• Ressonância magnética
• Tomografia computadorizada de múltiplos detectores

Congenital absence of the pericardium is a rare cardiac malformation and is most often asymptomatic. It is usually discovered as an incidental finding. Physical examination, chest radiography, and electrocardiogram are often unremarkable. Echocardiography provides valuable information, and sometimes computed tomography or magnetic resonance imaging is needed for subsequent confirmation.

• Absence of the pericardium
• Complete defect
• Partial defect

• Absence of pericardium
• Congenital
• Imaging
• Non-invasive

Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct diagnosis.

• Cardiology
• congenital anomaly
• radiology

Pericardial defects are infrequent congenital anomalies due to agenesis caused by premature atrophy of the common cardinal vein or Cuvier duct during the 5^th or 6^th week of embryonic life. These congenital defects are rare, typically observed as an incidental finding and usually remain asymptomatic. Nevertheless, the more widespread use of modern imaging techniques has contributed to an increase of its incidence in recent years. There is currently no consensus regarding therapeutic options, all of which are based on small retrospective studies that evaluate the risk of developing a life-threatening complication such as herniation and incarceration of the myocardium. We report on a 22-year-old male who presented with sudden onset of sharp chest pain and dyspnea. Computed tomography and cardiac magnetic resonance scan revealed a pericardial defect adjacent to the lateral free wall of the left atrium with associated herniation of the left atrial appendage. The patient was managed conservatively and had an uneventful clinical progress.

• Pericardial defect
• Chest pain
• Atrial herniation

• Congenital
• Echocardiography
• Pericardioplasty
• Pericardium

• Adult
• Death, Sudden, Cardiac/etiology
• Humans
• Male
• Pericardium/abnormalities

• Adult
• Death, Sudden, Cardiac/etiology
• Humans
• Male
• Pericardium/abnormalities

• sinus horn
• venous pole
• sinoatrial node
• tbx18
• raldh2
• retinoic acid

• Aldehyde Oxidoreductases/genetics
• Aldehyde Oxidoreductases/metabolism
• Animals
• Apoptosis
• Cell Lineage
• Coronary Sinus/embryology
• Coronary Sinus/metabolism
• Fetal Death
• Gene Expression Regulation, Developmental
• Genotype
• Gestational Age
• Heart Defects, Congenital/embryology
• Heart Defects, Congenital/genetics
• Mesoderm/metabolism
• Mice
• Mice, Knockout
• Mice, Transgenic
• Mutation
• Pericardium/embryology
• Pericardium/metabolism
• Phenotype
• Pleura/embryology
• Pleura/metabolism
• Signal Transduction/genetics
• Sinoatrial Node/embryology
• Sinoatrial Node/metabolism
• T-Box Domain Proteins/genetics
• T-Box Domain Proteins/metabolism
• Tretinoin/metabolism
• WT1 Proteins/deficiency
• WT1 Proteins/genetics
• WT1 Proteins/metabolism

• R01 HL070733 NHLBI NIH HHS