My son has RAF1, and we now know we all have this same mutation. His cardiologist mainly checks for HOCM, however nobody in this family has HOCM. My son has a leaky aortic valve and a leaking mitral valve. Could the RAF1 diagnosis be incorrect, as RAF1 is associated with HOCM and not valve leakages?
Although RAF1 variants are more commonly associated with HCM, not everyone with RAF1 always has HCM, and there is a lot of overlap with other conditions, such as leaky heart valves. It is likely the RAF1 diagnosis is correct, but that is hasn’t caused HCM in the family. He should remain under follow up, though, as sometimes the HCM develops later.
