Genetic screening in heritable thoracic aortic disease-rationale, potentials and pitfalls

Area of Science:

• Cardiovascular Medicine
• Genetics
• Medical Diagnostics

Background:

• Thoracic aortic aneurysms (TAAs) are often asymptomatic until a catastrophic event like dissection or rupture.
• A significant portion (20%) of TAA patients have a family history, suggesting a strong genetic basis for the disease.

Purpose of the Study:

• To review the rationale, applications, limitations, and future directions of genetic screening in hereditary thoracic aortic disease (HTAD).
• To highlight the potential of genetic screening in personalizing aortic care and reducing morbidity and mortality.

Main Methods:

• This review synthesizes current literature on genetic screening in HTAD.
• It examines the role of genetic testing in identifying causative mutations and at-risk individuals.

Main Results:

• Genetic screening can detect specific genetic mutations responsible for HTAD.
• It aids in identifying asymptomatic at-risk family members.
• It informs surgical timing for individuals with confirmed genetic aortopathy.

Conclusions:

• Genetic screening is crucial for personalized aortic care in HTAD.
• It offers a proactive approach to managing thoracic aortic aneurysms and preventing adverse outcomes.
• Further research is needed to address current limitations and expand future applications.