The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases

Area of Science:

• Cardiovascular Genetics
• Medical Genetics
• Aortic Diseases

Background:

• Heritable thoracic aortic disease (HTAD) encompasses disorders leading to aortic aneurysm or dissection, primarily affecting the ascending aorta.
• HTAD is categorized as non-syndromic (aorta-limited) or syndromic (with extra-aortic features).
• A family history of aortic disease is present in 20-25% of non-syndromic HTAD cases, necessitating thorough family evaluations.

Purpose of the Study:

• To review the clinical characteristics and natural history of common HTADs.
• To emphasize the critical role of genetic testing in HTAD risk stratification and management.
• To highlight how genetic diagnosis impacts patient prognosis and treatment strategies.

Main Methods:

• Review of existing literature on Heritable Thoracic Aortic Disease (HTAD).
• Analysis of clinical data concerning aortic events, syndromic vs. non-syndromic classifications, and familial inheritance patterns.
• Evaluation of the diagnostic and prognostic significance of genetic testing in HTAD.

Main Results:

• HTAD diagnosis is confirmed by genetic testing, especially in cases with a family history, aiding etiological diagnosis.
• Genetic testing guides family screening and significantly impacts patient management due to varying natural histories and treatment strategies.
• Prognosis in HTAD is linked to aortic dilation progression and specific underlying genetic mutations.

Conclusions:

• Genetic testing is essential for accurate HTAD diagnosis, risk stratification, and tailored management.
• Understanding the genetic basis of HTAD is key to predicting disease progression and improving patient outcomes.
• Comprehensive genetic evaluation and family screening are vital for managing heritable thoracic aortic diseases effectively.