congenital heart block

Congenital heart block is a condition characterized by a disruption in the electrical signals of the heart, leading to varying degrees of atrioventricular block that can manifest within the first 28 days of life. The inheritance pattern is autosomal recessive, indicating that both parents must carry a copy of the mutated gene for a child to be affected. Clinical features often include a complete third-degree atrioventricular block, which is present in 80-99% of cases. Other associated features may include premature birth and symptoms such as syncope and congestive heart failure, although these are less common.

The clinical picture of congenital heart block primarily involves the heart's electrical conduction system. The most significant feature is the atrioventricular block, which is always present. Third-degree atrioventricular block occurs in 80-99% of patients, leading to potential severe complications. Other clinical features that may be observed include premature birth (30-79% of cases), syncope (5-29%), and congestive heart failure (5-29%). These symptoms can vary in their presentation and severity, highlighting the need for careful monitoring and management.

The documentation surrounding congenital heart block is limited due to its rarity and the complexities involved in its clinical presentation. Because this condition affects a relatively small number of individuals, systematic clinical studies have been scarce, making it challenging to gather comprehensive data. Additionally, the genetic basis of congenital heart block remains largely unidentified, further complicating the understanding and characterization of the condition.

Currently, there are 40 active clinical trials investigating various aspects of congenital heart block. These trials may focus on treatment approaches or management strategies. You can explore ongoing research and potential participation opportunities through the ClinicalTrials.gov website at https://clinicaltrials.gov/search?cond=congenital%20heart%20block. While there are no orphan drugs designated for this condition, the active trials represent hope for future advancements in understanding and managing congenital heart block.