Marfan's Syndrome Flashcards
What type of inheritance does Marfan’s syndrome have?
Autosomal dominant
What is Marfan’s caused by?
A defect in the FBN1 gene on chromosome 15
What does the FBN1 gene code for?
Protein fibrillin-1.
What is fibrillin an important component of?
Connective tissue
What are the features of Marfan’s due to?
Abnormal connective tissue.
What are some of the typical features of Marfan’s syndrome?
- Tall stature
- Long neck
- Long limbs
- Long fingers (arachnodactyly)
- High arch palate
- Hypermobility
- Pectus excavatum
- Downward sloping palpable fissures
- pes planus
What features are associated with Marfan’s syndrome?
- Lens dislocation in the eye
- Joint dislocations and pain due to hypermobility
- Scoliosis of the spine
- Pneumothorax
What heart defects are associated with Marfan’s syndrome?
Dilatation of the aortic sinus which can lead to:
* Aortic aneurysm
* Aortic dissection
* Aortic regurgitation
* Mitral valve prolapse
What can occur due to hypermotility?
Joint dislocations
What can occur in the eye’s of someone with marfan’s syndrome?
Lens dislocation
What is pectus exanthem?
An abnormal condition in which the breastbone sinks into the chest.
What is Pes Planus?
Flat feet
What are the 2 tests for arachnodactyly?
Cross their thumb across their palm- thumb tip goes past the opposite edge of the hand
Wrap the thumb and fingers of one hand around the other wrist- thumb and fingers overlap
What is the main aim of the management of Marfan’s syndrome?
Minimise the blood pressure and heart rate to minimise the stress on the heart and the risk of complications developing.
What are some lifestyle changes for someone with Marfan’s?
Avoiding intense exercise and avoiding caffeine and other stimulants
