Semin Thorac Cardiovasc Surg 2019 Winter;31(4):628-634. Epub 2019 Jun 15.
Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut. Electronic address:
Nonsyndromic thoracic aortic aneurysm and dissection (TAAD) account for 95% of all TAAD cases and comprise a subset in which the lack of obvious clinical signs makes diagnosis a challenge. Despite the potentially fatal natural history, timely diagnosis and prophylactic surgical intervention allow restoration of near-normal life expectancy in TAAD patients, underlining the critical importance of screening tests. To date, more than 30 TAAD disease-causing genes have been identified, and over 30% of nonsyndromic TAAD patients have a genetic mutation in 1 or more of these genes. Whole exome sequencing allows routine genetic testing in a clinical setting by screening for all TAAD-related genes, thus facilitating personalized aortic care. Additionally, increased vigilance upon diagnosis of certain TAAD-related diseases ("guilty associates") and the emergence of modern radiologic and novel serologic screening tests will further bolster efforts to detect undiagnosed asymptomatic nonsyndromic TAAD.