marfans syndrome Flashcards
define marfan syndrome
An autosomal dominant connective tissue disorder caused by a mis-sense mutation of the fibrillin 1 gene.
what is marfan syndrome characterised by
by being tall and thin with unusually long arms and legs.
what is fibrillin
an important component of connective tissue
- therefore people with Marfan’s have features resulting from abnormal connective tissue
presentation of marfans
- disproportionately thin and tall
- unusually long, hypermobile arms and legs (dolichostenomelia)
- high-arch palate
- arachnodactyly (long, spidery fingers)
- Pectus Carinatum / Pectus Excavatum
what other systems does marfans affect
- CVD
- opthalmic
- MSK
- neuro
CVD issues associated with marfans
- Thoracic aortic aneurism/dissection
- Aortic regurgitation/root dilation
- Mitral valve prolapse/regurgitation
- Abdominal Aortic Aneurism (AAA)
- Spontaneous pneumothorax
investigatins for marfans
- physical exam
- ghent criteria
- echo
- MRI
- eye exam
how to confirm arachnodactyly
using the positive wrist sign
- where the thumb and little finger overlap when wrapped around the wrist.
what does ghent criteria use to make a diagnosis of marfans
- systemic and cardiovascular scores
- as well as combinations of family history, ectopia lentis, and the presence of the FBN1 gene mutation
3 methods to manage marfans
- conservative
- medical
- surgical
conservative treatment options for marfans
- Genetic testing and counselling
- Education regarding activities and exercise
- Avoiding the Valsalva manoeuvres
- Surveillance ECG
- Annual ophthalmologic assessment
medical treatment options for marfans
- BP control
- Beta-blockers / ARBs (
- Avoidance of fluoroquinolone antibiotics
surgical treatment options for marfans
- Aortic and heart valve surgery as prevention
- Dislocated lens may require surgery
