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Genomic technologies in cardiac medicine

In this step, we will hear how genomic technologies have impacted on the diagnosis of inherited cardiac disease

Dr Tessa Homfray, Consultant in Clinical Genetics, discusses how genomic technologies have transformed the diagnosis of inherited cardiac disease, how they are transforming available treatment options and the increasing use of molecular cardiac autopsies.

Dr Homfray uses some technical terms in this video. She discusses that genetic conditions can cause a number of the different heart (or cardiac) conditions.

Dr Homfray particularly discusses enlargement of the heart (cardiomyopathy) or disruption of the normal heart rhythm (channelopathies, long QT) which can lead to sudden death from ventricular fibrillation.

Typically, an individual affected with one of these genetic cardiac conditions can appear healthy until they suffer a catastrophic cardiac event. In this tragic eventuality, genetic testing at post mortem (a cardiac autopsy) may provide vital information for the wider family to determine treatment and surveillance of at-risk family members.

Talking point

Can you think of the advantages and disadvantages of a cardiac autopsy?

Would you want to know if you had inherited a genetic predisposition to a heart condition which could result in sudden death?

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The Genomics Era: the Future of Genetics in Medicine

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