congenital complete agenesis of pericardium

Congenital complete agenesis of pericardium is a congenital heart malformation in which the pericardium, the protective sac surrounding the heart, is completely absent or partially absent. The condition is mostly asymptomatic and is often discovered incidentally during surgery or autopsy. Although many affected individuals do not experience symptoms, some may present with chest pain, shortness of breath, dizziness, slow heart rate, or fainting. Precise prevalence estimates are not well established due to the incidental nature of its diagnosis.

The clinical presentation of congenital complete agenesis of pericardium is highly variable. Most individuals remain asymptomatic, with the condition frequently being identified by chance. In those who do experience symptoms, chest pain is commonly reported, while episodes of shortness of breath, dizziness, bradycardia, and syncope occur less often. Not all individuals experience all features, and severity varies considerably.

The precise genetic basis for congenital complete agenesis of pericardium remains under investigation, and no specific genes have been identified to date. It is generally considered to arise as an isolated developmental anomaly rather than through a clear inherited pattern. As a result, the condition is not typically associated with a familial inheritance pattern, and environmental or sporadic developmental factors are thought to play a role.

Currently, management of congenital complete agenesis of pericardium focuses on supportive care and symptom management. In many cases, no active treatment is required if the condition remains asymptomatic; however, individuals who experience symptoms such as chest pain or syncope may benefit from tailored medical management. Treatment strategies are designed to address specific symptoms and complications as they arise, with care typically involving a multidisciplinary team. Patients should discuss treatment options with their healthcare team to determine which therapies may be most appropriate for their situation.

The outlook for individuals with congenital complete agenesis of pericardium is generally favorable, particularly because the condition is most often incidentally diagnosed and may remain asymptomatic. However, outcomes vary depending on the severity and presence of symptoms, with some individuals experiencing episodic symptoms that require ongoing management. With current standards of care, many individuals lead normal lives, and outcomes described in medical literature continue to evolve as standards of care improve. Families are encouraged to connect with cardiology specialists and other healthcare providers for further guidance and support.