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Genetic heart disorders are an important cause of sudden arrhythmic death syndrome (SADS) in people <40 years of age.1
In many cases, the death of a young person in the family can often be the first sign of a potential genetic heart disease within that family.2 Identifying a genetic basis of sudden cardiac death is vital in being able to accurately manage families.3
What do I need to know?
SADS is an umbrella term to describe unexpected deaths in young people (usually <40 years of age), whose cause of death following post mortem examination is ‘undetermined’ or ‘unascertained’.3
The most common SADS conditions include genetic arrhythmia syndromes such as long QT syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome.
These conditions follow an autosomal dominant inheritance pattern. Therefore, first-degree relatives (ie parents, siblings, children) of an individual who has a genetic arrhythmogenic disorder are at a 50% risk of also having a gene variant for the condition, and thus, at risk of developing the condition. All these conditions show considerable clinical variability within families and have incomplete penetrance.1,4,5
Of interest are individuals presenting with:3
- any first-degree relatives with unexplained sudden cardiac death <40 years of age
- episodes of unexplained syncope
- syncope or seizures during exercise, excitement or startle.
Collect a comprehensive family history (three generations), noting any relatives with the features above.3
Genetic testing can be arranged through a genetics clinic if appropriate.6 There is currently no Medicare Benefits Schedule (MBS) rebate for testing.
When should I refer?
Refer those with relevant family history to cardiology for cardiac screening tests, and to a cardiac genetics clinic for risk assessment.2
Familial screening is vital when a genetic heart condition has been confirmed in an index case.
Emotional and psychological support is vital for families where sudden cardiac death has occurred and referrals for grief counselling should be offered.2
Resource for general practitioners
Australian Genetic Heart Disease Registry (AGHDR)
Resources for patients
AGHDR information sheets
Centre for Genetics Education, Fact sheet 58: Primary arrhythmogenic disorders
Sudden Arrhythmic Death Syndrome (SADS) Australia