Abstract
Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.
Highlights
Thoracic aortic aneurysm (TAA) is a dangerous, deadly, and silent disease that is notoriously difficult to detect and diagnose prior to complications [1]
It is believed that only 5% of TAA are symptomatic prior to dissection or rupture and even when dissection presents with symptoms, less than 50% are promptly diagnosed in the emergency department prior to death [2]
Prognostication is further complicated by the fact that dissection can occur in patients with Ehlers-Danlos Syndrome (EDS) can occur at midsized arterial diameters without aneurysm development, prompting a recommendation for prophylactic surgery at aortic diameters between 4.5 cm and 5.0 cm [71]
Summary
Thoracic aortic aneurysm (TAA) is a dangerous, deadly, and silent disease that is notoriously difficult to detect and diagnose prior to complications [1]. There is significant variation in the severity of TAAD presentation, even within the same family [11] This classification system provides a convenient hierarchy for discussing the genetic causes of TAAD, the true clinical picture is much more complex. 20% of non-syndromic patients have one affected family member, known as familial TAAD, providing further evidence for a genetic link [17,18,19]. This leaves a substantial majority of patients with no cause of syndromic TAAD and no family history—what can be thought of as “random” or sporadic TAAD. Unlike multifactorial diseases like atherosclerosis, TAAD tends to be caused by a single base change in a single gene [7]
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