Should I be screened again for HCM?

Posted by kdm1028 @kdm1028, Sat, Aug 24 10:42pm

Hello – I had an echo 3 1/2 years ago because my older sister and my first cousin were diagnosed with HCM. The echo came back normal. About 2 years ago I started having palpitations to the point of almost fainting. Given my age (49 then, 51 now), I assumed it was menopausal related. I continue to have episodes of rapid heart rate in “spurts” but they no longer cause the blood to drain from my face and the almost fainting has not occurred for at least the last 6 months. 3 months ago my oldest son (29) was diagnosed with HCM. I mentioned this to my doctor and she ran an in office EKG which was normal. My palpitations continue. My question is – Should I see my son (and my sister ‘s) HCM cardiologist specialist to discuss and/or have another echo? Is it possible that something was missed on the first echo or even possible it wouldn’t have shown up at the age of 48?

Any advice is appreciated!

Yes. See HCM specialist and get a HCM genetic mutation test. This will establish the facts of the matter and whether or not any other of your children have a 50 percent chance of developing HCM.

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@captainterry

Yes. See HCM specialist and get a HCM genetic mutation test. This will establish the facts of the matter and whether or not any other of your children have a 50 percent chance of developing HCM.

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Thank you for your response. My cousin did have the genetic testing already. So I’m assuming that any mutation would show up on the same chromosome so that should be easy to do. Does a carrier show up different compared to someone that has it? I only have one other bio child (26) and her echo she had last month was also normal.

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I am a HCM patient, not an expert. Your sister has HCM, so likely you also have 50% chance of having the mutated gene. If so, then your children have a 50% chance as well. However, the mutated gene may be present but not cause the conditions we call HCM, perhaps never manifest symptoms. Many repeated echocardiograms over years are primarily looking for heart muscle thickness and resultant restrictions to blood flow, etc. Seems to me a person can get the HCM question answered much faster and more efficiently with the genetic test. I would for sure see a HCM cardiologist for opinion and evaluation.

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@captainterry

I am a HCM patient, not an expert. Your sister has HCM, so likely you also have 50% chance of having the mutated gene. If so, then your children have a 50% chance as well. However, the mutated gene may be present but not cause the conditions we call HCM, perhaps never manifest symptoms. Many repeated echocardiograms over years are primarily looking for heart muscle thickness and resultant restrictions to blood flow, etc. Seems to me a person can get the HCM question answered much faster and more efficiently with the genetic test. I would for sure see a HCM cardiologist for opinion and evaluation.

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Thank you!! Your responses are very helpful 👍🏻

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Welcome to Connect, @kdm1028 and @captainterry,

@captainterry, I do think that your experience with HCM makes you an “expert” in a manner of speaking:) Thank you for sharing your story.

@kdm1028, allow me to introduce you to @ronitb @rrowner2 @ajand @sheim @timdines @mbcube @vivian88 @ronaldpetrovich @margie11 @PatMattos @traceysmith, who might be able to answer your questions about screening.

Here are a few discussions where @melissax3 @bamknits @reenj62 @jshah @archer @conbrue have written about the possibility of AFib, rapid heart rhythm, dizziness related to HCM:
https://connect.mayoclinic.org/discussion/afib-and-hcm/
https://connect.mayoclinic.org/discussion/i-need-answers-1/
https://connect.mayoclinic.org/discussion/dizzy-spells/

I’d also like to offer this information (from Mayo Clinic) with regard to diagnostic tests and clinical trials:
https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/care-at-mayo-clinic/mac-20350208
https://www.mayo.edu/research/clinical-trials/cls-20320508?_ga=2.130841679.119402583.1566397261-1699395448.1566397261

@kdm1028, from what I’ve researched, an in-office EKG is not the best test for diagnosing HCM; have you consulted with a cardiologist or ruled out other possibilities (AFib, tachycardia, etc.) for your symptoms?

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@kanaazpereira

Welcome to Connect, @kdm1028 and @captainterry,

@captainterry, I do think that your experience with HCM makes you an “expert” in a manner of speaking:) Thank you for sharing your story.

@kdm1028, allow me to introduce you to @ronitb @rrowner2 @ajand @sheim @timdines @mbcube @vivian88 @ronaldpetrovich @margie11 @PatMattos @traceysmith, who might be able to answer your questions about screening.

Here are a few discussions where @melissax3 @bamknits @reenj62 @jshah @archer @conbrue have written about the possibility of AFib, rapid heart rhythm, dizziness related to HCM:
https://connect.mayoclinic.org/discussion/afib-and-hcm/
https://connect.mayoclinic.org/discussion/i-need-answers-1/
https://connect.mayoclinic.org/discussion/dizzy-spells/

I’d also like to offer this information (from Mayo Clinic) with regard to diagnostic tests and clinical trials:
https://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/care-at-mayo-clinic/mac-20350208
https://www.mayo.edu/research/clinical-trials/cls-20320508?_ga=2.130841679.119402583.1566397261-1699395448.1566397261

@kdm1028, from what I’ve researched, an in-office EKG is not the best test for diagnosing HCM; have you consulted with a cardiologist or ruled out other possibilities (AFib, tachycardia, etc.) for your symptoms?

Jump to this post

I have contacted our HCM cardiology team in my area. They have ordered a new echo and Holter monitor for 48 hours. Then in two weeks I have an appt to go over results with the cardiologist.

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I had echoes at age 21 and 47. My HCM did not show up until an echo at age 63. Hope this is helpful

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