Congenital heart disease Flashcards
Congenital long QT syndrome:
- what does it cause?
- how many people are carriers?
- how many gene subtypes exist?
- name 1 autosomal dominant condition
- name 2 autosomal recessive conditions?
Torsades de pointes triggered by adrenergic stimulation: syncope/sudden cardiac death
1 in 2000 carriers
13 subtypes of LQTS (13 genes)
- autosomal dominant: romano-ward syndrome
- autosomal recessive: jerveli and lange-nielsen syndrome
What are the risk factors for sudden cardiac death in long QT syndrome? 4
Age dependant
Gender: pre-adolescent males and adult females
increasing QT prolongation
Prior syncope and response to beta blockers
What are the three lifestyle recommendations for those with congenital LQTS?
- avoidance of QT prolonging drugs
- correction of electrolyte abnormalities that may occur during diarrhoea/vomiting/metabolic conditions
- avoidance of genotype-specific triggers for arrythmias e.g. strenuous swimming/exposure to loud noises
Brugada syndrome:
- what is it?
- what does diagnosis depend on?
- ECG abnormality with a high incidence of sudden death in patients with structurally normal hearts.
- diagnosis depends on characteristic ECG finding AND clinical criteria
What are the ECG abnormalities seen in brugada syndrome?
ST elevation and RBBB in V1-V3
- AF is common
- risk of torsades de pointes and VF
what is the clinical criteria for brugada syndrome? (6)
Documented ventricular fibrillation (VF) or polymorphic ventricular tachycardia (VT).
Family history of sudden cardiac death at <45 years old .
Coved-type ECGs in family members.
Inducibility of VT with programmed electrical stimulation .
Syncope.
Nocturnal agonal respiration.
(Diagnostic ECG changes may seen only with provocative testing with flecainide or ajmaline (drugs that block the cardiac sodium channel))
is bruagada syndrome autosomal dominant/recessive? more common in males or females? presenting in adults or children? how many assoc. genes?
Autosomal dominant
Males X 8
Adults
12 assoc. genes
In brugada syndrome what are common VF triggers?
Usually rest or sleep
Fever,
Excessive alcohol, large meals
Genotype and family history of SCD does not influence prognosis
What lifestyle changes are recommended for pts with brugada syndrome?
-avoidance of drugs that may induce ST elevation
(anti-arrythmics/psychotropic/analgesics/anaesthetics)
- avoidance excessive alcohol and large meals
- prompt treatment of fever with antipyretics
What is the treatment of brugada syndrome and who gets this?
ICD implantation
- survivors of an aborted cardiac arrest
- have documented spontaneous sustained VT
- ECG pattern and history of syncope
Catecholaminergic Polymorphic Ventricular Tachycardia:
- what is it?
- prevalence?
- ECG and echo?
- is it autosomal dominant or recessive?
Adrenergic induced bidirectional and polymorphic VT, SVTs, triggered by emotional stress, physical activity.
Prevalence 1 in 10000
Normal ECG and ECHO
Autosomal dominant: Ryanodine Receptor mutation (RyR2)
Recessive: cardiac calsequestrin gene (CASQ2)
what is the treatment for Catecholaminergic Polymorphic Ventricular Tachycardia
Lifestyle changes: avoid strenuous exercise, competitive sports, stressful environ.
beta blockers for allpt
ICD with or without flecainide if cardiac arrest/recurrent syncope/polymorphic or bidirectional VT
Hypertrophic cardiomyopathy:
what types of genes have mutations?
-mutations in sarcomeric genes mostly
What are the 5 clinical presentations of hypertrophic cardiomyopathy?
- sudden death
- heart failure
- angina
- atrial fibrillation
- asymptomatic
Dilated cardiomyopathy:
- prevalence?
- males or females?
- what genes are involved?
- how to predict risk?
1 in 2500 (7 per 100,000), low in childhood
Males > females
Sarcomere and desosomal genes, laminA/C and desmin if there is conduction disease, dystrophin if X-linked
Mutations found in 20% of cases
Risk prediction:
LVEF = 35%
EPS for risk stratification not recommended
