Therapeutic management of patients with Marfan syndrome: focus on cardiovascular involvement

Area of Science:

• Genetics
• Cardiovascular Medicine
• Connective Tissue Disorders

Background:

• Marfan syndrome is an autosomal dominant disorder affecting connective tissues, caused by mutations in the fibrillin-1 gene.
• It affects approximately 7-17 individuals per 100,000, with a historically low life expectancy (32 years) primarily due to cardiovascular complications.
• Optimal clinical management can significantly extend life expectancy in Marfan syndrome patients.

Purpose of the Study:

• To provide evidence-based guidelines for managing Marfan syndrome.
• To facilitate differential decision-making for medical and surgical therapeutic strategies.
• To address specific challenges in juvenile, postoperative, and pregnant patients.

Main Methods:

• Review of current clinical management strategies for Marfan syndrome.
• Emphasis on noninvasive imaging, molecular analysis of the fibrillin-1 gene, and genetic counseling.
• Discussion of cardiovascular surveillance, including aortic imaging and endocarditis prophylaxis.

Main Results:

• Optimal management can normalize life expectancy for Marfan syndrome patients.
• Key management components include genetic analysis, lifestyle modifications, and regular cardiovascular monitoring.
• Beta-blocker use, surgical timing, and techniques require individualized assessment.

Conclusions:

• Comprehensive management, integrating medical and surgical approaches, is crucial for improving outcomes in Marfan syndrome.
• Early and consistent cardiovascular surveillance is paramount for preventing life-threatening complications.
• Personalized treatment plans are essential, particularly for high-risk patient subgroups.