
Integrated Learning
January 24, 2025 at 02:23 PM
Marfan's syndrome is an inherited connective tissue disorder that is caused by a mutation in a gene that codes for an extracellular matrix protein-fibrillin-1 (FBN1). The FBN1 locus is on the long arm of chromosome 15. It is a clinical diagnosis based on skeletal, cardiovascular, and ocular manifestations.
Skeletal manifestations:
• Overgrowth of long bones (dolichostenomelia) with an arm span to height ratio of more than 1.05
• Pectus carinatum or pectus excavatum
• Long and slender fingers (arachnodactyly), contracture of fingers (camptodactyly)
• Malar hypoplasia
• Joint laxity
Cardiovascular manifestations:
• Thickened atrioventricular valves, valvular prolapse (mitral regurgitation)
• Aortic valve dysfunction due to aortic root aneurysm
• Aortic dissection and rupture due to cystic medial necrosis of the aorta
Ocular manifestations:
• ectopia lentis
• myopia
• flat cornea
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