Screening children for hypertrophic cardiomyopathy

[razzmatazz]

I have hypertrophic cardiomyopathy (gene identified) and have an 18 month old son. As yet, we are unaware whether he has inherited the condition, though I understand this could be determined by a simple blood test. At the same time, we are aware there might be other ways to go about this, e.g. sequential echoes throughout his childhood. We are keen to know current thinking on the best way to screen children of affected individuals and would very much appreciate any guidance in this area.

[Nurse Rachel Walker]

As you have had the gene change identified, as long as this is one that is known to cause hypertrophic cardiomyopathy (HCM), your son can have a blood test to see if he has inherited this gene change. If he has, then he will then need screening throughout his life to see if he develops the condition. It is less common for it to develop in childhood, and so screening through this period may be less frequent, but it is worth arranging a referral to a paediactric cardiologist so you can make a plan for how and when this will happen. Once he reaches the age of 12 or 13, screening with ECG and echo would need to be done at least once a year until adulthood, when it may be less frequent.

If he is found not to have the gene change, he will not need any screeing at all.

If you choose not to have the gene testing, screening would be carried out in the same way as it wold if he was found to have the gene change.

As you have had gene testing done, I assume that you have been in touch with a genetic cousellor in the past, and would suggest contacting them to discuss the pros and cons of testing.