[Marfan's syndrome. Aortic complications studied by scanography].

Area of Science:

• Cardiovascular Imaging
• Medical Diagnostics
• Genetics and Rare Diseases

Background:

• Marfan syndrome is a genetic disorder affecting connective tissue, with aortic aneurysm and dissection posing significant risks.
• Aortic complications, including cystic medial necrosis leading to dissection, are a primary cause of morbidity and mortality in Marfan syndrome.
• Accurate diagnosis of aortic lesions is crucial for timely intervention and improved patient outcomes.

Observation:

• This study evaluated the utility of computerised axial tomography (CAT) in diagnosing aortic lesions in three Marfan syndrome patients.
• CAT imaging was compared against traditional methods like angiography and echocardiography.
• The assessment focused on the ability of CAT to visualize anatomical changes in the aorta, coronary arteries, pericardium, and mediastinum.

Findings:

• Computerised axial tomography effectively visualizes aortic anatomical changes in Marfan syndrome, including aneurysms and related structures.
• CAT avoids invasive arterial catheterization required for angiography and delivers significantly less radiation compared to other imaging modalities.
• While CAT provides a comprehensive overview, the precise point of dissection entry was not visualized in two of the presented cases.

Implications:

• Computerised axial tomography is a valuable, non-invasive diagnostic tool for assessing aortic complications in Marfan syndrome.
• The findings suggest CAT should be considered as a primary or adjunctive imaging modality for Marfan syndrome patients with suspected aortic disease.
• Further research may explore optimizing CAT protocols to enhance visualization of dissection entry points in Marfan syndrome patients.