Cardiomyopathy Conference 2020 - Genetics and Screening - Dr Helen Cox

Dr Helen Cox introduces the role of genes and gene-testing in cardiomyopathy.
04:25 - Causes of cardiomyopathy
06:39 - When can we be confident that the cause is genetic?
06:56 - What is a family tree / family pedigree?
10:40 - What is a genetic counsellor?
23:21 - What is a 'variant of uncertain significance'?
36:42 - Where do our genes come from?
Your questions:
30:40 - I have HCM, being diagnosed at the age of 32. My father had HCM. What is the recommended age my children should be screened?
31:50 - Do you believe that there is a much higher incidence of genetic cause of DCM than is currently suggested?
32:40 - Good news! I’ve reached 60 despite my HCM, thanks to great healthcare support and an ICD. I have never been able to have a genetic screen on the grounds of age, why not? Both of my children had negative genetic screens, but I believe this is not 100% definitive. Surely if I had a screen and was found to have familial HCM, that is of some value to my children?
34:58 - Will we ever be able to identify all of the genes that identify DCM? I ask because my genetic testing was inconclusive, despite having a parent with the condition.
35:35 - I have HCM, what is the percentage chance of transmitting this to my children if I were to get pregnant?
37:35 - What is the approximate length of time it should take to get the results from genetic screening?
38:22 - If there is no-one else in the family with DCM, what are the main benefits and disadvantages of having genetic testing? The cause of my DCM diagnosis is also unknown.
This is a recording of a live presentation at the Cardiomyopathy Conference 2020, hosted by Cardiomyopathy UK.
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