Q87.4

Clinical Causes: Marfan syndrome is caused by mutations in the FBN1 gene, which encodes the protein fibrillin-1. This genetic change is inherited in an autosomal dominant pattern, meaning only one copy of the altered gene from either parent can cause the disorder. In some cases, Marfan syndrome results from a new mutation, with no previous family history of the condition.

Key Symptoms: Tall and slender build with long arms, legs, fingers, and toes Flexible joints and scoliosis (curvature of the spine) Chest deformities such as pectus excavatum (sunken chest) or pectus carinatum (pigeon chest) Disproportionately long fingers and toes (arachnodactyly) Eye problems, including dislocated lenses, nearsightedness (myopia), and increased risk of eye detachment Weakness of the aortic wall, which can lead to aneurysm or dissection Potential issues with the heart valves, causing regurgitation or prolapse

Diagnosis Path: Assessment of physical features and systemic involvement Echocardiogram to examine the heart and blood vessels Eye exams to detect lens dislocation and other ocular issues Genetic testing to identify mutations in the FBN1 gene Measurement of limb proportions to evaluate the characteristic long limbs

Treatment Protocols: Regular monitoring of the cardiovascular system, particularly the aorta, with imaging studies Medications such as beta-blockers or angiotensin receptor blockers to reduce stress on the aorta Surgical interventions for aortic aneurysms or dissections as needed Ophthalmologic treatments for lens dislocation or other eye issues Lifestyle modifications to avoid strenuous activities that might strain the cardiovascular system Genetic counseling for affected individuals and their families