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Routine Genetic Testing for Thoracic Aortic Aneurysm and Dissection in a Clinical Setting
Bulat A Ziganshin1, Allison E Bailey2, Celinez Coons2
1Aortic Institute at Yale-New Haven, Yale University School of Medicine, New Haven, Connecticut.
The Annals of Thoracic Surgery
|July 20, 2015
Summary
Routine genetic testing for thoracic aortic aneurysm and dissection (TAAD) identified mutations in key genes. This personalized approach aids in managing aortic disease and discovering new genetic links.
Area of Science:
- Genetics
- Cardiovascular Medicine
- Medical Diagnostics
Background:
- Hereditary factors are significant in thoracic aortic aneurysm and dissection (TAAD).
- Genetic predispositions to TAAD are linked to several genes.
- Routine genetic testing via whole exome sequencing (WES) was initiated for TAAD patients.
Purpose of the Study:
- To present initial results from a clinical program for routine genetic testing in TAAD patients.
- To identify genetic alterations associated with thoracic aortic aneurysm and dissection.
- To explore the utility of whole exome sequencing in diagnosing TAAD.
Main Methods:
- Whole exome sequencing (WES) was performed on 102 patients diagnosed with TAAD.
- A 21-gene panel relevant to TAAD was analyzed.
- Patients included 70 males with a mean age of 56.8 years.
Main Results:
- No medically significant genetic alterations were found in 72.5% of patients.
- Deleterious mutations were identified in FBN1, COL5A1, MYLK, and FLNA genes in 3.9% of patients.
- Twenty-two novel variants of unknown significance were detected in multiple genes, including FBN1, MYH11, and ACTA2.
Conclusions:
- Routine genetic screening for TAAD offers personalized care insights.
- The study identified novel mutations contributing to aortic pathology.
- Further analysis of variants of unknown significance can define the genetic spectrum of TAAD.
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