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Nonsyndromic Thoracic Aortic Aneurysms and Dissections-Is Screening Possible?
Thais Faggion Vinholo1, Mohammad A Zafar1, Bulat A Ziganshin2
1Aortic Institute at Yale-New Haven Hospital, Yale University School of Medicine, New Haven, Connecticut.
Seminars in Thoracic and Cardiovascular Surgery
|June 19, 2019
Summary
Nonsyndromic thoracic aortic aneurysm and dissection (TAAD) is often undiagnosed due to subtle symptoms. Genetic testing and advanced screening methods are crucial for early detection and improved patient outcomes.
Area of Science:
- Cardiovascular Genetics
- Aortic Disease Research
- Medical Diagnostics
Background:
- Nonsyndromic thoracic aortic aneurysm and dissection (TAAD) constitutes 95% of all TAAD cases.
- The subtle clinical presentation of nonsyndromic TAAD poses diagnostic challenges.
- Early diagnosis and surgical intervention are vital for improving life expectancy in TAAD patients.
Purpose of the Study:
- To highlight the importance of screening tests for early detection of nonsyndromic TAAD.
- To emphasize the role of genetic testing and novel screening methods in managing TAAD.
- To facilitate personalized aortic care through comprehensive genetic analysis.
Main Methods:
- Utilizing whole exome sequencing for routine clinical genetic testing of TAAD-related genes.
- Increasing vigilance for "guilty associate" diseases that may indicate TAAD.
- Employing modern radiologic and novel serologic screening tests.
Main Results:
- Over 30 TAAD disease-causing genes have been identified.
- Genetic mutations are found in over 30% of nonsyndromic TAAD patients.
- Whole exome sequencing enables screening of all TAAD-related genes in a clinical setting.
Conclusions:
- Timely diagnosis of nonsyndromic TAAD through genetic and advanced screening is critical.
- Personalized aortic care can be facilitated by comprehensive genetic testing.
- Enhanced vigilance and novel screening tests improve the detection of asymptomatic nonsyndromic TAAD.
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