Genetics Flashcards
1
Q
What is penetrance?
A
The likelihood of having a disease if you have the corresponding genetic mutation.
2
Q
What are mendelian disorders?
A
Those that are predominately caused by a change in a single gene.
3
Q
What change is observed in long QT syndrome?
A
Takes longer for repolarisation.
4
Q
How is long QT syndrome managed?
A
Avoid medications that may lengthen this.
Give long-acting beta-blockers.
5
Q
What is brugada syndrome?
A
An inherited channelopathy associated with polymorphic VT, VF and AF.
6
Q
What pattern of inheritance seen in brugada syndrome?
A
Autosomal dominant
7
Q
What is Wolff-Parkinson White Syndrome?
A
A syndrome causing shortened PR interval and an accompanying delta wave.
8
Q
What are epsilon waves seen in?
A
Arrhythmogenic right ventricular cardiomyopathy
