Scientific Background
Aortopathy is any disease affecting the aorta, the largest artery of the circulatory system, which is directly connected to the heart and is the starting point of blood transportation to the entire body. Aortopathies are considered a significant burden on healthcare systems internationally as they are responsible for early mortality, there is an increased number of incidences, and often they go undiagnosed until a major health complication.
Hereditary aortopathies are even more underdiagnosed. Early identification of genetic mutations in genes known to be associated with hereditary aortopathies, through genetic testing, can provide valuable information to the healthcare provider for better surveillance and timing of prophylactic repair, more accurate prognosis, and offering a more personalized therapy based on the patient’s specific genetic mutation.
Who is this test for?
The most recent guidelines for the diagnosis and management of aortic disease, published by the American College of Cardiology and the American Heart Association in November 2022, highlight the importance of genetic testing for people with
- syndromic features
- family history of thoracic aortic disease or
- early symptoms of aortopathy
Genetic testing can identify pathogenic variants in genes known to be associated with aortopathies in patients with increased risk of aneurysm, dissection, or both, and inform the healthcare provider for optimal timing for prophylactic assessment or therapy.
References
- Goyal A, Keramati AR, Czarny MJ, Resar JR, Mani A. The Genetics of Aortopathies in Clinical Cardiology. Clin Med Insights Cardiol. 2017 May 30;11:1179546817709787. doi: 10.1177/1179546817709787. PMID: 28607545; PMCID: PMC5457142.
- Isselbacher, E. M., Preventza, O., Hamilton Black, J., Augoustides, J. G., Beck, A. W., Bolen, M. A., Braverman, A. C., Bray, B. E., Brown-Zimmerman, M. M., Chen, E. P., Collins, T. J., DeAnda, A., Fanola, C. L., Girardi, L. N., Hicks, C. W., Hui, D. S., Schuyler Jones, W., Kalahasti, V., Kim, K. M., . . . Woo, Y. J. (2022). 2022 ACC/AHA Guideline for the Diagnosis and Management of Aortic Disease: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines. Circulation, 146(24). https://doi.org/10.1161/cir.0000000000001106
How many genes are tested in this panel?
48 genes
What diseases are associated with the genes tested in this panel?
- Marfan syndrome
- Ehlers-Danlos syndrome
- Loeys-Dietz syndrome
- Familial Thoracic Aortic Aneurysm and Dissections
- Bicuspid Aortic Valve Disease