genetics of disfunction Flashcards Preview

S&F III: Exam 1 > genetics of disfunction > Flashcards

Flashcards in genetics of disfunction Deck (11):
1

Long QT syndrome

LoF due to defects in voltage gated Na and K channels
QT interval >.350; QTCc >.470
VFib (torsades de pointes)

2

LQT1

defective Ks channel *exercise trigger*

3

LQT2

Kr channel defective *loud noise*

4

LQT3

defective fast inactivating Na channel (increased inward NA)
**sleep**

5

how treat long QT?

beta blockers

6

LQT mutation effect

change AP firing
increased repol time--> vent dysrhythmia (DEAD)
prolonged AP

7

SQT syndrome

QTc < 320
GoF due to increased efflux of K; increases rate of 2&3

8

SQTS mutation

Afib, dizziness; Kr, Ks, K1

9

Afib mutations

LoF: K1.5V; connexin 40 (gap junction)
GoF: Kr, Ks, K1

10

Hypertrophic Cardiomyopathy

autosomal dominant
myosin and troponoin problems
cells disarray

11

Dilated cardiomyopathy

left ventricular enlargement, reduced EF
sarcomere component mutations
hypotrophy heart