Inherited Cardiac Conditions Flashcards
What are the 3 main cardiomyopathies?
1) Hypertrophic (HCM)
2) Dilated (DCM)
3) Arrhythmogenic right/left ventricular [ARVC/ALVC]
What causes each cardiomyopathy?
1) HCM: Sarcomeric gene mutations e.g. beta myosin, troponin T mutation. 1/500 usually
2) ARVC/ALVC: Desmosome gene mutation
What is the usual inheritance pattern for cardiomyopathies?
Autosomal dominant; off-spring have 50% chance of being affected
What is the PP of each cardiomyopathy?
HCM: Heart can’t relax properly as ventricular walls thickened
DCM: Ventricular dilation and dysfunction –> Poor contractility
ARVC/ALVC: Desmosome attach cells via intermediate filaments, mutations cause myocytes to be pulled apart and ventricles are replaced with fatty fibrous tissue
What are the main symptoms of each cardiomyopathy?
1) HCM: Angina, Dyspnoea and Syncope
2) DCM: Breathless, tired and oedema (Like HF)
3) ARVC/ALVC: Ventricular Tachycardia
What would an ECG look like for each cardiomyopathy?
HCM: Large QRS complexes and large inverted T waves
ARVC/ALVC: Epsilon waves
What is restrictive cardiomyopathy and the main common cause of it?
Def: Poor dilation of heart restricting diastole
CC: Amyloidosis (EC deposition of insoluble fibrillar protein)
What are channelopathies and some main examples?
Mutations in genes coding for ion channels
1) Long QT 2) Short QT 3) Brugada 4) CPVT
Main symptom: Recurrent syncope
What ion channel is affected in Brugada syndrome?
Sodium - Characteristic ST elevation in chest leads
What usually triggers sudden cardiac death in young people?
Inherited condition
What does SADS (sudden arrhythmic death syndrome) usually refer to?
Normal heart and arrhythmia
What is familial hypercholesterolaemia?
Inherited abnormality of cholesterol metabolism, leading on to coronary and other vascular diseases
What are some of the main treatments for ICC?
Beta-blockers, statins, vascular surgery and implantable cardiac defibrillator
