Thoracic aortic aneurysm: How to counsel, when to refer

Area of Science:

• Cardiology
• Genetics
• Radiology

Background:

• Thoracic aortic aneurysms (TAA) are typically asymptomatic and progress slowly.
• Aneurysm expansion can accelerate, leading to life-threatening aortic dissection or rupture.
• Known causes include bicuspid aortic valve, genetic syndromes (Marfan, Loeys-Dietz, Ehlers-Danlos), and familial links, alongside idiopathic cases.

Purpose of the Study:

• To highlight the importance of recognizing subtle imaging findings suggestive of TAA.
• To emphasize the need for screening first-degree relatives of TAA patients.
• To advocate for prompt referral to specialized cardiologists for aortic disease management.

Main Methods:

• Review of clinical presentation and risk factors for TAA.
• Analysis of diagnostic clues from chest imaging.
• Guidelines for familial screening and specialist referral.

Main Results:

• TAA often presents without symptoms until a critical expansion phase.
• Genetic syndromes and bicuspid aortic valve are significant risk factors.
• Idiopathic cases are common, necessitating vigilance.

Conclusions:

• Clinicians must be alert to chest imaging findings indicative of TAA.
• Screening of first-degree relatives is recommended for early TAA detection.
• Early consultation with a cardiologist specializing in aortic disease is essential for optimal patient outcomes.