inherited cardiac conditions Flashcards
1
Q
Inheritied cardiomyopathy conditions?
A
- ARVC
- Hypertrophic cardiomyopathy
2
Q
Inherited channelopathy conditions?
A
- Long QT syndrome
Brugada syndrome
3
Q
Inherited aortopathy conditions?
A
- marfans syndrome
- helps danlos
4
Q
Cardiomyopathy meaning?
A
- heart muscle abnormality
5
Q
Channelopathy meaning?
A
- heart rhythm abnormality
6
Q
Aortopathy meaning?
A
- arterial blood vessel abnormality
7
Q
How do channelopathies arise? what genes are effected?
A
- mutations in genes that encode the cardiac ion channels
- mainly affects depolarisation
- AF in a young person??
8
Q
The most frequent long QT syndrome mutation protein?
A
- potassium voltage gated channel
9
Q
Long QT syndrome can be a _______ dominant mutation
A
- autosomal dominant
- 50% chance passing on to children
- can be an autosomal recessive - deafness (less common)
10
Q
What is Torsades de pointes?
A
- is a specific form of polymorphic ventricular tachycardia in patients with a long QT interval
11
Q
Treatment and management of long QT syndrome?
A
- beta blockers
- diet rich in potassium
- if severely bradycardia - pacemaker
12
Q
What is the mutation associated with brugada syndrome?
A
- mutations in the sodium channels
13
Q
Brugada syndrome is autosomal _____?
A
- autosomal dominant
14
Q
Management of brugada syndrome?
A
- not a drug treatment
- avoid triggers
- avoid drugs that may induce brugada changes on ECG
15
Q
What mutation is associated with hypertrophic cardiomypoathy?
A
- mutation in sarcomeric genes
