The Orthobullets Podcast Pediatrics | Marfan Syndrome
Aug 21, 2025
Dive into the fascinating world of Marfan Syndrome, a genetic disorder that affects connective tissues. Discover the diverse symptoms and the importance of accurate diagnosis and treatment strategies. The discussion highlights recent studies on key physical characteristics in patients and the challenges of managing scoliosis among them. Learn why a multidisciplinary approach is crucial for optimal care and how surgical interventions play a pivotal role in treatment.
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Marfan Is A Multisystem Genetic Disorder
- Marfan syndrome is a congenital connective tissue disorder due to FBN1 mutation causing multisystem involvement.
- It presents with long limbs, skeletal, cardiovascular, and ocular abnormalities requiring multidisciplinary care.
Epidemiology And Genetic Basis
- Incidence is about 1 in 10,000 with no known gender or ethnic predilection.
- Genetics are autosomal dominant with FBN1 on chromosome 15 and 30% can be sporadic mutations.
Characteristic System Involvements
- Orthopedic features include arachnodactyly, scoliosis (50%), protrusio acetabuli, dural ectasia (>60%), and pectus deformities.
- Non-orthopedic features include aortic root dilatation, mitral valve prolapse, lens dislocation, and spontaneous pneumothorax.