Genetic Heart Disease Flashcards
1
Q
What is Marfan syndrome?
A
Autosomal dominant multi system connective tissue disorder caused by the fibril in 1 gene on chromosome 15q21
2
Q
How to diagnose Mariam syndrome?
A
Arrange echo to measure diameter of sinus of valsalva, relate to age and BSA.
X-RAY for protrusio, MRI for Duran extasia
3
Q
What can be done prophylactically for cardiac problems in Marfan’s syndrome?
A
Aortic root surgery
Beta blockers
