Genetic Heart Disease Flashcards
1
Q
Genetics of Marfan’s Syndrome
A
Mutation of Fibrillin 1 gene
Autosomal dominant multisystem connective tissue disease
2
Q
Features of Marfans
A
Major criteria: Aortic Dilatation/Dissection Dural ectasia (ballooning of dural sac) Arachnodactyly Armspan > height Pectus deformity Scoliosis
Minor signs:
Mitral valve prolapse
high-arched palate
Joint hypermobility
Genetics:
Family history + genetic tests for Fibrillin 1 mutation
3
Q
Management of Marfans
A
Annual reviews with echo
Beta-blockers slow aortic root dilatation
Maybe an ARB
