Inherited Cardiac Conditions Flashcards
Name three types of ICC
- cardiomyopathy
- channelopathy
- aortopathy
What is meant by cardiomyopathy? Give some example
heart muscle abnormality
e.g ARVD, dilated/restrictive/hypertrophic cardiomyopathy
What is meant by channelopathy? Give examples
heart rhythm abnormality
e.g long QT syndrome, brugada syndrome
What is meant by aortopathy? Give examples
arterial blood vessel abnormality
How will ICCs present?
normal appearance, symptoms relate to arrhythmia, heart failure & sudden death
What are the symptoms of ICC?
palpitations, fast heart beats, faints, SOB, chest pain
How to channelopathies arise?
mutations in genes encoding for cardiac ion channels lead to abnormal cardiac cellular electrophysiology mainly affected depolarisation
If a young person presents with AF what is the likely diagnosis?
Long QT syndrome
What is congenital long QT syndrome?
prolonged depolarisation leads to longer QT
How will long QT look on an ECG?
QT>440ms in males >450ms in females
How many subtypes of long QT are there? What are the most common?
13 subtypes
2 most common
- autosomal dominant isolated long QT
- autosomal recessive associated with deafness
What is another name for autosomal dominated isolated long QT?
Romano ward syndrome
What is another name for autosomal recessive long QT?
Jervell & lange Nielsen syndrome
What is the hallmark arrhythmia of long QT syndrome?
polymorphic VT but can be lone AF/heart block
What will be the presenting complaint in patients with long QT?
syncope (SCD in children)
Name five triggers for long QT syndrome
- exercise
- sudden noise
- medication
- hypokalaemia
- sleep
Describe the treatment for long QT syndrome
- beta blockers (nadolol)
- avoid QT prolonging drugs
- correction of electrolyte abnormalities
- avoid triggers
What is brugada syndrome?
genetic condition affecting electrical activity of the heart, commonly causing AF
What is the main risk of brugada syndrome?
Developing polymorphic VT & VF
What will be seen on an ECG of a patient with brugada syndrome?
ST elevation & RBBB in V1-3
How is brugada syndrome diagnosed?
provocative testing using drugs that block sodium channels in cardiac cells to produce diagnostic changes on ECG
In brugada what triggers VF?
- rest/sleep
- fever
- excessive alcohol
- large meals
What is the treatment for brugada syndrome?
- avoid drugs that induce ECG changes
- avoid excessive alcohol/larger meals
- ICD if ventricular arrhythmia
In general how are ICCs diagnosed?
clinical & genetic testing
