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Genetic testing for inherited cardiac conditions is 'patchy' in Europe
Date:6/26/2011

iori, "and results should defined in the context of a comprehensive clinical evaluation." Counselling, particularly among family members, is essential for reassurance about disease risk and surveillance.

The consensus provides an assessment of the strength of indication for genetic testing in different conditions. In some diseases, such as hypertrophic cardiomyopathy or long QT syndrome, the recommendations to test all individuals with a clinical diagnosis are strong. In other diseases, such as Brugada syndrome or dilated cardiomyopathy, there is a value in performing the test, but the strength of recommendation is lower. And there are some instances - such as atrial fibrillation - where genetic testing cannot yet be indicated.

Similarly, the report does not recommend genetic testing in all cases of out-of-hospital cardiac arrest, but recommends that testing should be performed if there is a clinical sign or suspicion of an inherited arrythmogenic disease. However, genetic testing "may be considered" in all cases of sudden unexpected death, including sudden infant deaths (SIDS), where autopsy yields negative results. Studies suggest that genetic mutations can explain an underlying cause of sudden unexpected death in up to 35% of cases. Even events such as drowning or motor accidents in the young may in fact be attributed to cardiac arrhythmias of genetic cause.

Ultimately, says Dr Priori, the report hopes to lower the risk of sudden cardiac death by promoting the appropriate use of genetic testing - and to ensure their reimbursement from insurance and health care systems.


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Contact: Jacqueline Partarrieu
press@escardio.org
33-492-947-756
European Society of Cardiology
Source:Eurekalert

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