aortic aneurysm, familial thoracic 7

Familial thoracic aortic aneurysm type 7 (AAT7) is associated with variants in the MYLK gene, which is known to play a role in smooth muscle contraction and vascular function. The inheritance pattern is autosomal dominant, indicating that a single copy of the mutated gene can increase the risk of developing the condition. Clinical features include ascending aortic dissection and aortic rupture, both of which occur in 30-79% of affected individuals. Descending aortic dissection and sudden death are also noted, with lower frequencies of 5-29%. Despite these known associations, the overall prevalence of this condition remains poorly characterized.

Key clinical features of familial thoracic aortic aneurysm type 7 include ascending aortic dissection and aortic rupture, both of which are reported in 30-79% of cases. Additionally, descending aortic dissection and sudden death may occur in 5-29% of individuals. These serious complications highlight the importance of monitoring and management in affected individuals, particularly those with a family history of the condition.

Documentation for familial thoracic aortic aneurysm type 7 is limited primarily due to its rarity and the recent identification of its genetic basis. As this condition affects a relatively small population, comprehensive clinical studies have been scarce, leading to gaps in our understanding of its full clinical spectrum. Ongoing research may provide more insights in the future.