genetics of disfunction

Question 1

Long QT syndrome

Answer 1

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

Question 2

LQT1

Answer 2

defective Ks channel exercise trigger

Question 3

LQT2

Answer 3

Kr channel defective loud noise

Question 4

LQT3

Answer 4

defective fast inactivating Na channel (increased inward NA)

sleep

Question 5

how treat long QT?

Answer 5

beta blockers

Question 6

LQT mutation effect

Answer 6

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

Question 7

SQT syndrome

Answer 7

QTc < 320

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

Question 8

SQTS mutation

Answer 8

Afib, dizziness; Kr, Ks, K1

Question 9

Afib mutations

Answer 9

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

Question 10

Hypertrophic Cardiomyopathy

Answer 10

autosomal dominant
myosin and troponoin problems
cells disarray

Question 11

Dilated cardiomyopathy

Answer 11

left ventricular enlargement, reduced EF
sarcomere component mutations
hypotrophy heart