[Latest advances in the diagnosis and treatment of Marfan syndrome]

Area of Science:

• Genetics and Molecular Biology
• Medical Genetics
• Connective Tissue Diseases

Background:

• Marfan syndrome (MFS) is a multisystem connective tissue disease inherited in an autosomal dominant pattern.
• The primary cause of MFS is a mutation in the FBN1 gene, leading to varied clinical presentations.
• Neonatal Marfan syndrome is a rare and severe form with a poor prognosis.

Purpose of the Study:

• To review the latest advancements in the diagnosis of Marfan syndrome.
• To summarize current therapeutic strategies and recent progress in treating Marfan syndrome.
• To highlight the importance of early detection and intervention for patients with MFS.

Main Methods:

• Comprehensive literature review of recent studies on Marfan syndrome diagnosis.
• Analysis of current treatment guidelines and emerging therapeutic approaches for MFS.
• Synthesis of information on clinical manifestations and prognostic factors in MFS.

Main Results:

• Significant progress has been made in understanding the genetic basis and clinical spectrum of MFS.
• Diagnostic criteria have been refined, improving early and accurate identification.
• While no cure exists, multidisciplinary management strategies can improve patient outcomes.

Conclusions:

• Early identification, diagnosis, and treatment are critical for improving the lifespan and quality of life for Marfan syndrome patients.
• Ongoing research into FBN1 gene mutations and targeted therapies holds promise for future MFS management.
• A coordinated approach involving genetic counseling, regular monitoring, and timely intervention is essential for effective MFS care.