Genetic syndromes Flashcards
0
Q
Jervell and Lange-Nielsen
A
Autosomal recessive congenital long QT + sensorineural deafness
1
Q
Romano-Ward
A
Auto Dom, congenital long QT due to re polarization defect
2
Q
Brugada
A
Auto Dom, Asian males, pseudo right BB and ST elevation in V1-3
-risk of ventricular tach and SCD
3
Q
What is Osler-Weber-Rendu syndrome?
A
It’s HHT! autosomal dominant, skin, lips, oronasopharynx, resp tract, GI, and GU all have telangiectasias causing hepatitis, epistaxis, and GI bleeding.
4
Q
What’s the effect of prostacyclin?
A
It inhibits platelet aggregation and adhesion to vascular endothelium and vasodilates. Damages endothelial cells can’t produce it so capillaries are at risk of thrombus and hemostasis from thromboxane A2
