Thanks!
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I hope your friend is doing well and stays healthy for years to come. I think his question is misguided. It's uninteresting what the probability is of having a syndrome (genetic or otherwise) that increases the risk of SCD. What's interesting is the risk of SCD. +
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Why is it not interesting? It's very practical. Off the top of my head: a genetic variant isn't going to go away, strongly implying the SCD risk is permanent; it implies that the rest of his family is at risk and needs testing; and it is relevant if he is considering kids (PGD).
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I dunno about you, but the question of 'was this a freak event, perhaps exacerbated by lifestyle, or do I have a drop-dead-out-of-nowhere gene which my kids and family might also have?' seems *very* interesting.
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They're trying to distinguish between "freak event", "known genetic issue", or "other undiagnosed condition"; establishing/ruling out the genetic issue is important.
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I agree.
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In all of those cases (including "freak event"), the course of treatment for someone with an elevated risk of SCD is the same - defibrilator implantation. Having an SCD is evidence of an elevated risk of SCD. Your friend needs a device. Knowing why is academic.
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The risks to family members and future children is relevant, but I hadn't been considering that, and I expect neither has he.
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