Marfan's syndrome Flashcards
1
Q
Definition
A
Genetic connective tissue disorder
2
Q
Genetics
A
Autosomal dominant
FBN1 fibrillin 1 gene on chrom 15
3
Q
Features
A
Aorta: myxomatous degeneration –> aortic dilatation, aneurysms
Heart valves: cystic medial degeneration –> prolapse of mitral and aortic valves
Lungs: spontaneous pneumothorax
Skeletal: long limbs, long fingers, scoliosis, high arch palate, pectus excavatum/carinatum, hyperflexible joints
Eyes: subluxation of lens, cataracts
