Marfan's syndrome Flashcards
1
Q
inheritance pattern
A
autosomal dominant
2
Q
what gene is affected
A
gene responsible for creating fibrillin, which is an important component of connective tissue
results in abnormal connective tissue
3
Q
features
A
tall statue long neck long limbs arachnodactly high arch palate hypermobility pectus carinatum pectus excavatum downward sloping palpable fissures aortic or mitral valve regurg
4
Q
tests for arachnodactly
A
cross thumb over palm - if thumb tip goes past opposite edge then indicates arachnodactly
wrap thumb and fingers around wrist - if thumb and fingres overlap then arachnodactly
5
Q
assoc conditions
A
lens dislocation joint dislocation scoliosis pneumothorax GORD mitral valve prolapse w regurg aortic valve prolapse w regurg aortic aneurysm
6
Q
aim of Mx
A
reduce BP and HR to minimise stress on heart
lifestyle - avoid intense exercise, avoid caffieine
beta blockers, ARB
7
Q
pregnancy
A
need careful consideration as inc risk aortic aneurym
