Diagnosis and management of Marfan syndrome

Area of Science:

• Genetics and наследственные заболевания
• Cardiology
• Rheumatology

Background:

• Marfan syndrome (MFS) is a prevalent inherited connective tissue disorder associated with considerable morbidity and mortality.
• Diagnosing MFS presents challenges due to overlapping clinical features with other conditions and the general population.
• Diagnostic dilemmas are particularly notable in pediatric and adolescent populations, as MFS manifestations develop over time.

Purpose of the Study:

• To review the diagnostic challenges and current management strategies for Marfan syndrome.
• To emphasize the importance of the Ghent criteria in diagnosing MFS.
• To highlight the potential benefits of early screening and intervention in improving patient outcomes.

Main Methods:

• Review of existing literature and diagnostic criteria for Marfan syndrome.
• Analysis of clinical manifestations and their evolution in different age groups.
• Evaluation of current treatment protocols, focusing on blood pressure management and activity recommendations.

Main Results:

• The Ghent criteria provide a framework for diagnosing Marfan syndrome, though challenges remain, especially in younger individuals.
• Clinical features of MFS can be non-specific, complicating differential diagnosis.
• Current management focuses on mitigating cardiovascular risks through strict blood pressure control and judicious physical activity selection.

Conclusions:

• Early and accurate diagnosis of Marfan syndrome is crucial for effective management.
• Aggressive screening protocols and timely intervention can significantly enhance the quality of life for individuals with MFS.
• Further research may refine diagnostic criteria and therapeutic approaches for Marfan syndrome.