![]() Identification of pathogenic variants in genes allows early diagnosis and an opportunity to initiate management to prevent AADs, including mitigating lifestyle risk factors for AADs. Genes with rare variants that predispose to thoracic aortic aneurysms and dissections (TAD) have been extensively explored over the past 3 decades, and pathogenic variants in 11 genes have been validated to predispose to highly penetrant TAD. The predominant pathological change during aortic disease progression is aortic medial degeneration, which is characterized by elastic fiber fragmentation, smooth muscle cell (SMC) loss, and extracellular matrix accumulation of proteoglycans. Furthermore, the incidence of AAD is 3–6 cases per 100,000 person-years in the general population, which is most likely an underestimate since up to 49% of AADs results in pre-admission death and one out of three AADs are misdiagnosed. However, the majority of patients presenting with type A AADs have diameters <5.5 cm, and type B AADs occur without significant aortic enlargement, indicating more accurate predictors of AADs are critically needed. Surgical repair of root/ascending TAAs to prevent type A AAD is recommended at an aortic diameter of 5.0–5.5 cm. Approximately 7% of out-of-hospital sudden deaths are due to AADs, and the incidence has increased over the past 20 years for unknown reasons. Less acutely fatal, type B AADs originate in the descending thoracic aorta just distal to the left subclavian artery. An acute aortic dissection (AAD) is an emergency condition that causes sudden death in up to 50% of afflicted individuals. The natural history of these aneurysms is that they enlarge over time, until a tear forms in the intimal layer of the aortic wall typically above the sinotubular junction that leads to Stanford type A aortic dissection. A thoracic aortic aneurysm (TAA) is a balloon-like bulge or enlargement in the thoracic aorta. The aorta is the largest artery in the body that originates from the heart, curves through an arch in the upper chest, and descends into the abdomen to deliver oxygen and nutrition to distal organs.
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