Marfan's syndrome Flashcards

1
Q

Definition

A

Genetic connective tissue disorder

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2
Q

Genetics

A

Autosomal dominant

FBN1 fibrillin 1 gene on chrom 15

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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

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