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Writer's picturePurab Kothari

It's Topic Tuesday!


Happy Tuesday, everyone! My name is Purab Kothari and I'm very excited to contribute to Topic Tuesdays, starting with this week. Let’s take some time today to explore the role of genetic testing in your aortic health.


If you’ve followed our previous posts, you already know how critical early detection and monitoring are for aortic conditions. But did you know that up to 1 in 5 cases of thoracic aortic aneurysm and dissection (TAAD) have a genetic component? That’s why genetic testing can be such a vital tool—not just for individuals but for entire families.


When Should You Consider Genetic Testing?


There are several scenarios where genetic testing might be beneficial:

  • A family history of aortic aneurysms or dissections: If close relatives have been diagnosed with these conditions, your risk may be higher.

  • Early-onset aortic disease: Experiencing an aortic aneurysm or dissection at a young age could point to an inherited condition.

  • Connective tissue disorders: Conditions like Marfan syndrome, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome often include aortic disease as a key feature.


If any of these apply, genetic testing can help uncover whether a specific mutation is contributing to your risk.


How Does Genetic Testing Work?


Genetic testing typically involves a blood or saliva sample, which is sent to a specialized lab for analysis. The results can identify mutations in genes like FBN1 (Marfan syndrome), COL3A1 (vascular Ehlers-Danlos syndrome), or SMAD3 (Loeys-Dietz syndrome), among others. Knowing this information allows your healthcare team to tailor a prevention and treatment plan that fits your unique needs.



What Are the Benefits?


One major advantage of genetic testing is personalized screening and management. For example:

  • Surveillance imaging: If you have a genetic predisposition, your doctors may recommend more frequent imaging, such as echocardiograms or CT scans, to monitor your aorta.

  • Family health insights: If a genetic mutation is identified, your relatives can also be tested to assess their risks, potentially preventing complications before they arise.

  • Informed treatment decisions: For conditions like aortic aneurysms, the results might influence the timing of surgical intervention, even at smaller aneurysm sizes, to prevent dissection. Identification of a specific genetic syndrome may help identify other related symptoms.




Is Genetic Testing Right for You?


While genetic testing is a powerful tool, it’s not for everyone. It’s most useful when there’s a clear reason to suspect a hereditary cause. A genetic counselor can guide your decision to pursue genetic testing, explaining what to expect and how the results could impact your care.


Remember, genetic testing is meant to give you and your family the knowledge to make proactive, informed choices about your health.


Thanks for tuning in to this week’s “Topic Tuesday”! Whether you’re considering genetic testing or just learning more about the aorta, every step you take to understand your health makes a difference. Let’s keep the conversation going—drop your questions or topic suggestions for future posts! I look forward to interacting with you all and creating informative posts in the near future :)


-Purab Kothari


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