Inherited Cardiac Conditions Flashcards
What are the three main types of inherited cardiac conditions?
Cardiomyopathies –> heart muscle
Channelopathies –> heart rhythm
Aortopathies –> arterial blood vessels
Give some examples of cardiomyopathies
Hypertrophic cardiomyopathy
Dilated cardiomyopathy
Restrictive cardiomyopathy
Arrhythmogenic RV cardiomyopathy
Give some examples of channelopathies
Long QT syndrome
Brugada syndrome
Give two examples of aortopathies
Marfan’s
Ehlers Danlos
What causes channelopathies?
Mutations in genes that encode cardiac ion channels
–> propensity to develop arrhythmias
What does long QT syndrome look like on an ECG?
QTc interval prolongation
- > 440ms in men
- > 450ms in women
What in the hallmark arrhythmia that develops from long QT syndrome?
Polymorphic VT
What is another name for polymorphic VT?
Torsades de Pointes
Give some examples of triggers for VT onset in long QT syndrome
- exercise
- sleep
- sudden auditory stimuli
- medication
- hypokalaemia (prolongs QT)
How is congenital long QT syndrome managed?
Treat with beta-blockers
Avoid triggers and QT prolonging drugs
Maintain K+ at upper limit of normal –> eat potassium rich foods
Which arrhythmias does Brugada syndrome predispose to?
VT, VF or AF
Which ECG changes are seen in Brugada syndrome?
ST elevation + RBBB in V1 - V3
What are the triggers for VT in Brugada syndrome?
Usually rest/sleep
Fever
Excessive alcohol
Large meals
What is the management of Brugada syndrome?
Avoidance of drugs e.g. AADs, psychotropics, analgesics, anaesthetics
Avoid alcohol and large meals
Prompt treatment of fevers
ICD if ventricular arrhythmia
What does the heart look like in dilated cardiomyopathy?
Dilated, huge, flabby
What are some of the associations with dilated cardiomyopathy?
Congenital (X linked) Alcohol Hypertension Haemochromatosis Viral infection Autoimmunity Peri/postpartum Thyrotoxicosis
Which symptoms are seen in dilated cardiomyopathy?
Fatigue
SOB
–> heart failure
Which signs might be evident in dilated cardiomyopathy?
Tachycardia Hypotension Raised JVP Displaced apex S3 gallop rhythm Mitral or tricuspid regurgitation Pleural effusion Oedema Jaundice/hepatomegaly Ascites
Which investigations should be done in dilated cardiomyopathy and what might be found?
Raised BNP
CXR –> cardiomegaly, pulmonary oedema
Echo –> dilated heart, reduced ejection fraction
What is the leading cause of sudden cardiac death in young people, often athletes?
Hypertrophic cardiomyopathy
What is the pathophysiology in hypertrophic cardiomyopathy?
LV outflow tract obstruction due to asymmetrical septal hypertrophy
–> heart cannot relax during diastole
How might the pulse be described in someone with hypertrophic cardiomyopathy?
Jerky
What would the Echo show in someone with hypertrophic cardiomyopathy?
Asymmetrical septal hypertrophy
Which cardiac abnormalities are associated with Marfan’s syndrome?
Aortic root dilatation –> aortic regurgitation
Mitral valve prolapse and mitral regurgitation
Risk of aortic dissection
Which cardiac abnormalities are associated with Turner’s syndrome?
Coarctation of the aorta
Aortic stenosis
Bicuspid aortic valve
Aortic dilatation and dissection
Which cardiac abnormalities are associated with congenital rubella syndrome?
PDA
Atrial septal defect
Pulmonary stenosis
