PE Board- Syndromes

What are the main connective tissue disorders?

What are the similar patterns of cardiac defects in CTD?

Thoracic aortic aneurysm, MVP, MV regurgitation, Aortic dilation, Aortic insufficiency

What percent chance does a child have to inherit a mutate gene if the parent has it?

50%

What is Marfans syndrome?

It affects the connective tissue in the body. Caused by the proteins in te connective tissues.

What are the cardiac associations with Marfans?

Aortic root/ Asc Ao dilation, Aortic dissection, aortic aneurysm, AI, MVP, MR, TVP, TR, Pectus

What is Ehler Danlos syndrome?

Autosomal dominant CTD caused by mutations in the collagen type 3 gene.

What are the signs of EDS?

Joint hypermobility, skin abnormalities (cigarette paper scars, easy bruising, soft velvety skin), fragile GI & urinary organs, vascular fragility leading to dissection or rupture of medium to large muscular arteries.