Heart Issues in Carriers
My mother has been having chest pain episodes for the past few years. When she has had heart tests, everything has been normal up until now. She had an EKG last Monday that indicated ischemic changes so she was referred to a cardiologist. Today her Angiogram/Heart Catherization did not show any blockages but her ejection fraction was 37%. He said her heart is not squeezing as well as it should and mentioned cardiomyopathy (which is typical in DMD). I asked her if she mentioned that she was probably a carrier of DMD. She said she mentioned it but the cardiologist didn't seem to think it was a big deal as far as her heart is concerned. He told her she probably had a mild heart attack prior to this last episode and didn't know it and that probably weakened her heart.
I believe it may very well be related to DMD. She has never been tested for DMD carrier status but she has all the signs and symptoms of being a manifested carrier. She has been diagnosed with muscle weakness, she falls, she has ankle contractures, and her CPK's are always above 1000. And now she is showing heart changes. My daughter was tested and it was determined that she was a carrier and that it also confirmed that I am a carrier since I have two children with a duplication of exon 2.
It really bothers me that the cardiologist told her, her probable DMD status is unrelated and no big deal as far as her heart is concerned. I have heard good things about this cardiologist and I have heard that he is very knowledgeable but I don't believe he is well informed in this area. I may need to find some information to pass along to him. He didn't tell her to follow up with him or anything; just that she needed to follow up with her primary doctor in 8-10 days.
I just wanted to share and see what others might think about the situation.
Lisa Jones
Replies to This Discussion
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Permalink Reply by Susan Rathfelder on
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Here is an article on carriers and what they should know and look out for, it's from the MDA Quest magazine.
http://www.mda.org/publications/Quest/q56girlsdmd.html
This article has a table at the end with info on both boys with DMD and women carriers:
http://www.mda.org/publications/Quest/q132the_beat.html
Susan
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Permalink Reply by Lisa Jones on
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Thanks Susan!
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Permalink Reply by Ann Avery on
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http://community.parentprojectmd.org/profiles/blogs/the-female-side..."
And this article in MDA's QUEST suggests heart exams at a minimum of every 5 years for dmd carriers: http://www.mda.org/publications/Quest/q132the_beat.html Thank you Susan!!
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Permalink Reply by Wyatt's Mommy, Melissa on
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I've heard that us carriers have a 20 % change of heart related complications, I agree with you that you should be concerned for your mom. I would be a little more than upset with the doctor too. I'm sorry that you are having to go thru this with your mom. Take care. I hope it all works out.
Melissa
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Thanks Ann and Melissa for the links and comments. I am glad that Mom knows about these abnormalities. I think that is the most important thing in the situation. And even thought no followup was scheduled with the cardiologist, she can always see him if there are concerns. I forgot to mention there was some mild heart enlargement and I don't think I mentioned that she is already on lopressor and dyazide which will help. She also started taking aspirin daily after the ischemic changes were noted on EKG. In away it was some what a blessing that something showed up.....otherwise she may brush off the next episode. I did think about sending informtion to the cardiologist but I don't want to come across the wrong way. I just feel he should not dismiss what my mom was trying to tell him by saying her being a possible carrier would be unrelated to these heart issues.
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Update:
It turns out that my mother's heart condition is more serious than the cardiologist thought. She saw the cardiologist yesterday. He had been reviewing her records and noticed that she had extensive testing in 2007 ordered by her primary physician, and there were no findings at that time. The changes he observed on the heart catherization were what he assumed had developed over several years, not just a few years. He kept her on lopressor, added lisinopril, and changed her diuretic to spironolactone.
He is going to have an echocardiogram done on her in 6 months. If the medications don't help, he will probably have to put a defibrillator in. We had no idea her heart condition was this serious.
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The echocardiogram is not in 6 months.....It will be done on 6/24/10 and at that time, the cardiologist will determine whether or not she needs the defibrillator.
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Permalink Reply by Kristin Linke on
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Please tell me what the symptoms of a manifesting carrier is. I have been having chest pains for as long as I can remember and they seem to be getting worse. I have these episodes where I feel like my heart stopped for a sec. I even sometimes feel like I am having a heart attack. I am not sure who to see. We just moved a few weeks ago, so I don't have doctor's yet.
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StaffPermalink Reply by Kathi Kinnett on -
Kristin - if you live near a major hospital, I would call the department of cardiology, let them know your symptoms and make an appointment. If you have symptoms that require attention prior to obtaining an appointment, you should go to the emergency room. These sound like cardiac symptoms and/or symptoms related to anxiety, which can make the symptoms actually feel worse. The only way to know if the symptoms are or are not related to cardiac dysfunction is with testing (EKG, echo, etc). These symptoms are not related to being a manifesting carrier, but may be related to cardiomyopathy, which manifesting carriers are at increased risk of developing. Don't ignore them - get checked out!
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Permalink Reply by Lorrie Brandt on
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Carriers absolutely have a higher risk for Cardiac issues. I am now 36 but when I was 25 had a heart attack with no underlying cause known at that time or until last year when my 7 year old son was diagnosed with DMD. All DMD carriers should have regular annual checkups with a Cardiologist.
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StaffPermalink Reply by Kathi Kinnett on -
I totally agree with Lorrie - carriers should have their first cardiac evaluation in their early 20's. The current recommendations are to see a cardiologist and have at least an EKG and either cardiac MRI or echocardiogram every 3-5 years (sooner, of course, if there are abnormalities or new symptoms emerge). Again, the only way to tell is symptoms are indicators of cardiac ischemia or dysfunction (or not) is to have them checked out, so be sure to go see someone ~
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Kristin, that sounds scary. I hope you will able to find a doctor and get everything checked.
This is the latest on my mother: After being on lopressor, linsinopril, spironolactone for 6 months her ejection fraction went from 37% up to 40%. I believe that was about a year ago. What bothers us now is that she went back to the cardiologist earlier this month, after her primary doctor told her to ask the cardiologist for another EKG and Echocardiogram. The cardiologist told her, she was fine and didn't need those tests right now. That just doesn't sound right to me, with her ejection fraction still being so low about a year ago.
My son's ejection fraction has dropped from 57% to 48% in a little over a year. He was just started on spironolactone and was already taking lisinopril and carvedilol. They are very concerned about it, but they said the good thing is that it was caught early on the cardiac MRI.
Kathi, I was sorry to hear you and Dr. Cripe are no longer at CCHMC. I will miss you both!
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