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11 Cards in this Set

  • Front
  • Back
Marfan Syndrome Definition
Autosomal dominant inherited disorder of connective tissue characterized by a variety of abnormalities in many organs, including the heart, aorta, skeleton, eyes, and skin
Phenotypic Features
Age of onset: early childhood

Disproportionate tall stature

Skeletal anomalies

Ectopia lentis

Mitral valve prolapse

Aortic dilatation and rupture

Spontaneous pneumothorax

Phenotypic Features
Unusual height

The lower body segment (pubis to sole) is longer than the upper

Slender habitus

Reflects a paucity of subcutaneous fat

Long, thin extremities and fingers

Arachnodactyly = spider fingers
Marfan's Syndrome- Hereditary or non hereditary?
Hereditary disorder

Autosomal dominant

But 30% sporadic cases
Spontaneous new mutation

Affects 2 per 10,000 people
Which tissues does Marfan's Syndrome affect?
Affects connective tissue
What is Ectopia Lentis?
Ectopia lentis aka dislocation of the lens

Also other vision problems including severe myopia due to elongation eye and retinal detachment
What is a genocopy?
A genotype that determines a phenotype (i.e., Marfan Syndrome) similar to that determined by a different genotype
What is the Disease Etiology?
Autosomal dominant connective tissue disorder resulting from mutations in the gene FBN1

Incidence is 1 in 10,000 to 1 in 20,000

Estimated ~ 200,000 people have this syndrome in the U.S.

One of the most common single-gene malformations
What is the Pathogenesis?
The FBN1 gene encodes fibrillin which is a protein necessary in the formation of microfibrils

FBN1 located on chromosome 15

Microfibrils are the structural support molecules for tissues such as aortic adventitia, ciliary zonules and skin (i.e., connective tissue)
Survival Rate of Marfans
Premature death caused by aortic regurgitation, dissection, or rupture

Median age of survival is 74 (females) and 70 (males)

*Multi-organ system problems as listed previously
How do you manage Marfans?
NO curative treatment

Therapy involves surveillance, prevention, and managing symptoms to slow disease progression