Imaging of Genetic Thoracic Aortopathy

Area of Science:

• Genetics and Radiology
• Cardiovascular Imaging
• Thoracic Aortic Disease

Background:

• Aortopathy encompasses genetic diseases leading to increased risk of aortic events like aneurysm and acute aortic syndrome.
• Heritable thoracic aortic disease (HTAD) is subclassified into syndromic and nonsyndromic forms, with syndromic HTAD presenting specific phenotypic features.
• Radiologists are often the first to detect signs of genetic aortopathy, necessitating awareness of its implications.

Purpose of the Study:

• To highlight the importance of radiologist recognition of genetic aortopathy.
• To emphasize the distinct management and surgical intervention thresholds for genetic aortopathy compared to non-genetic forms.
• To underscore the need for familiarity with differential diagnoses, including acquired thoracic aortic diseases.

Main Methods:

• Review of imaging and phenotypic features associated with various types of genetic aortopathy.
• Comparison of diagnostic challenges and management strategies for genetic versus non-genetic aortopathy.
• Emphasis on a multidisciplinary approach integrating imaging for diagnosis and lifelong follow-up.

Main Results:

• Genetic aortopathy requires lower aortic diameter thresholds for surgical intervention.
• Surgical approaches and extent may differ in patients with genetic aortopathy.
• Overlapping imaging and phenotypic features can complicate diagnosis and follow-up recommendations.

Conclusions:

• Radiologists play a critical role in the early identification of genetic aortopathy.
• Accurate diagnosis and understanding of genetic aortopathy are essential for appropriate clinical management and surgical planning.
• Lifelong imaging surveillance is crucial for patients diagnosed with genetic aortopathy.