Pericardial Agenesis
Description
Patient Profile:
The patient is a 32-year-old guy with a BMI of 36 who is asymptomatic and has no risk factors or cardiac history.
An abnormal ECG during an occupational health assessment was the cause of the referral.ECG results 70 bpm sinus rhythm. Low peripheral lead voltages, R-wave progression is absent in precordial leads. T waves that are negative in leads III and aVF
Physical examination: Normal, apart from a left sternal border systolic ejection murmur.
Investigations:
Echocardiogram
challenging apical 4-chamber image (leftward, laterally displaced heart).
LV: maintained systolic function (EF 55%), aberrant diastolic expansion, and bulging apex.
X-ray of the chest
Heart displacement to the left.
Left cardiac border elongation ("Snoopy sign").
lung tissue positioned between the diaphragm and the base of the heart.
MRI of the heart (gold standard)
Complete left-sided pericardial agenesis was confirmed.
Results: The left side's pericardium is absent.
Displacement of the left heart.
LV apex that is rounded or dysmorphic.
excessive movement of the heart apex.
Size and function of the ventricles are normal (LVEF 57%, RVEF 57%).
No fibrosis or inflammation (no late gadolinium enhancement or oedema).
Holter: No significant arrhythmias at 48 hours.
Exercise test:
Arrhythmia or ischaemia is negative.
Normal coronaries on cardiac CT angiography.
Key Learning and Discussion
EPIDEMIOLOGY:
Because to the failure of pleuro-pericardial membrane fusion, the epidemiology is extremely rare (less than 1 in 10,000).
Types:
Complete (left, right, bilateral) → typically asymptomatic artial raises the risk of type A aortic dissection, arrhythmias, strangulation, and herniation.
Associations:
May be associated with diaphragmatic hernia, pectus excavatum, Marfan syndrome, VACTERL, and congenital cardiac disorders (ASD, PDA, and TOF).
Course of clinical practice:
Usually quiet, cardiac hypermobility can occasionally cause arrhythmias or chest discomfort.
Imaging clues:
X-ray → "Snoopy sign," lung interposition.
Echo → abnormal apex motion, difficult acoustic windows.
MRI → definitive, shows absent pericardium and excessive apex movement.
Treatment:
Complete asymptomatic → no intervention, follow-up only.
Partial forms → surgical correction if complications (herniation, compression, severe chest pain).
Prognosis: Variable, generally favorable in complete forms.
Protocol
CLINICAL PROBLEMS AND MANAGEMENT:
Diagnostic Difficulty and Unclear Presentation:
Problem: Non-specific electrocardiographic (ECG) irregularities during a standard occupational health examination led to the unintentional discovery of the patient's ailment. This illustrates how difficult it is often to diagnose pericardial agenesis because of its varied, frequently asymptomatic appearances and the vague results of early testing.
Management:
prompt referral for a specialised examination to a cardiac centre.
Multimodal imaging, including cardiac MRI, chest X-ray, and transthoracic echocardiography, is used to confirm the diagnosis and rule out any structural heart problems.
High diagnostic accuracy was achieved using repeated, stepwise studies; cardiac MRI was the conclusive test for pericardial agenesis.
Arrhythmia Risk and Associated Events
Problem: Because of the aberrant location and movement of the heart, patients with pericardial agenesis, particularly incomplete forms, are more likely to experience arrhythmias and even potentially fatal consequences like type A aortic dissection.
Management:
Holter ECG monitoring provides continuous cardiac rhythm observation for 48 hours.
Although the patient's Holter and exercise stress test findings were negative, the patient was nevertheless scheduled for subcutaneous loop recorder implantation because of the ongoing danger. Long-term, real-time monitoring for potentially harmful arrhythmias is provided by this gadget.
regular follow-up with specialists at intervals decided by the care team, in this case, every six months.
Uncertainty About the Prognosis and Clinical Course
Problem: Because pericardial agenesis is uncommon and clinical results vary greatly, the prognosis is not well defined. The patient may experience psychological stress because of this ambiguity, which may make continued care more difficult.
Management:
In the majority of complete, asymptomatic instances, thorough patient education on the condition's benign nature is necessary.
Continuous monitoring and follow-up guarantee the early detection of any new issues or modifications to heart condition.
Conservative care is recommended for asymptomatic, full forms, such as this one, which do not require active treatment or surgery.
Interventions in Nursing
Observation and Monitoring
To quickly identify arrhythmias, an ECG is continuously monitored while a patient is in the hospital or during cardiac testing.
monitoring for any new symptoms that could indicate heart problems, including palpitations, syncope, or chest discomfort.
Education of Patients and Families
Provide concise descriptions of the nature of pericardial agenesis with a focus on asymptomatic types of prognosis.
Instructions on symptoms (such as sudden, intense chest discomfort or unexplained shortness of breath) that should trigger an immediate medical consultation.
Support on an emotional level
providing psychological assistance to deal with worry about future risks and anxiety brought on by an unusual diagnosis.
promoting involvement in the choices made about continuing surveillance and monitoring plans.
Encouraging Multidisciplinary Treatment
collaborating with specialists in cardiology, radiology, and, if necessary, cardiothoracic surgery to provide thorough assessment and treatment.
Arranging and reminding them about testing and follow-up appointments.
Notes
For more information visite https://pubmed.ncbi.nlm.nih.gov/33679077/
