Inherited Disorders Flashcards
1
Q
Which form of Long QT most commonly associates with epilepsy
A
Long QT 2 (KCNH2)
2
Q
What are the classic precipitants for arrest in LQT 1/2/3
A
1 - physical exertion
2 - emotional/auditory stimuli
3 - sleep
3
Q
What happens to the QT during stress testing in those with LQT1?
A
Increased QT during exercise with slowing during recovery
4
Q
What happens to the QT during stress testing in those with LQT2?
A
Shortens during exercise and lengthens during recovery.
5
Q
At what Schwartz score is genetic testing indicated for suspected Long QT?
A
3 or more
6
Q
What is the likelihood of finding a pathogenic gene mutation in those with suspected Long QT with a Schwartz score of 3 or more?
A
50-80%
7
Q
What are the three most common pathogenic gene mutations associated with Long QT?
A
- KCNQ1 (LQT1)
- KCNH2 (LQT2)
- SCN5A (LQT3)
