Syndromes with aortic involvement: pictorial review

Area of Science:

• Cardiovascular Medicine
• Genetics
• Radiology

Background:

• Thoracoabdominal aortic pathologies can be linked to various genetic syndromes.
• Unusual or advanced aortic disease in young individuals warrants investigation for underlying syndromes.
• Patients with known syndromes require vigilant monitoring for aortic complications.

Purpose of the Study:

• To review common syndromes associated with thoracoabdominal aortic diseases.
• To highlight distinct clinical, imaging, and management features of each syndrome.
• To emphasize the role of advanced imaging and treatment strategies in syndromic aortic disease.

Main Methods:

• Review of clinical literature on syndromes affecting the aorta.
• Discussion of diagnostic criteria and imaging modalities for specific syndromes.
• Analysis of current treatment strategies for syndromic aortic pathologies.

Main Results:

• Commonly encountered syndromes include Marfan syndrome, Turner syndrome, ADPKD, NF, Williams syndrome, Alagille syndrome, and DiGeorge syndrome.
• Each syndrome presents unique patterns of aortic disease.
• Ancillary features aiding in syndromic diagnosis are identified.

Conclusions:

• Recognizing syndromic associations is crucial for managing thoracoabdominal aortic disease.
• Tailored monitoring and management based on specific syndrome characteristics improve patient outcomes.
• Advanced imaging and evolving treatment strategies are key in addressing these complex conditions.