inherited cardiac conditions Flashcards
Inheritied cardiomyopathy conditions?
- ARVC
- Hypertrophic cardiomyopathy
Inherited channelopathy conditions?
- Long QT syndrome
Brugada syndrome
Inherited aortopathy conditions?
- marfans syndrome
- helps danlos
Cardiomyopathy meaning?
- heart muscle abnormality
Channelopathy meaning?
- heart rhythm abnormality
Aortopathy meaning?
- arterial blood vessel abnormality
How do channelopathies arise? what genes are effected?
- mutations in genes that encode the cardiac ion channels
- mainly affects depolarisation
- AF in a young person??
The most frequent long QT syndrome mutation protein?
- potassium voltage gated channel
Long QT syndrome can be a _______ dominant mutation
- autosomal dominant
- 50% chance passing on to children
- can be an autosomal recessive - deafness (less common)
What is Torsades de pointes?
- is a specific form of polymorphic ventricular tachycardia in patients with a long QT interval
Treatment and management of long QT syndrome?
- beta blockers
- diet rich in potassium
- if severely bradycardia - pacemaker
What is the mutation associated with brugada syndrome?
- mutations in the sodium channels
Brugada syndrome is autosomal _____?
- autosomal dominant
Management of brugada syndrome?
- not a drug treatment
- avoid triggers
- avoid drugs that may induce brugada changes on ECG
What mutation is associated with hypertrophic cardiomypoathy?
- mutation in sarcomeric genes
What is hypertrophic cardiomyopathy?
- a condition in which a portion of the heart becomes thickened without an obvious cause.
- This results in the heart being less able to pump blood effectively.
What is dilated cardiomyopathy?
- a condition in which the heart’s ability to pump blood is decreased because the heart’s main pumping chamber, the left ventricle, is enlarged and weakened.
What are the benefits of S-ICD
- subcutaneous ICD
- prevention of vascular complications
- better cosmetic and functional outcome
- lead extraction safe
Disadvantages or transvenous ICD
- high risk off vascular and cardiac complications in life time of patient
- cosmetic and functional issues (seat belts, shoulder bags etc.)
- lead extraction has high risk of mortality
