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

 

 

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Kathi, I am just now seeing that you are on staff here at PPMD as Director of Clinical Services. That is awesome!

Yes !!  I really so excited to be an official part of PPMD!  Now everyone can ask me questions anytime :)

Lisa - 

your mom needs annual follow up, just like you and your son.  She should insist on this with her cardiologist.

yes - Dr. Cripe, Dr. Spicer and I have all moved on.  Dr. Cripe is the head of neuromuscular cardiology at Nationwide Children's Hospital in Columbus; Dr. Spicer is director of cardiollogy at Omaha Children's Hospital, and I am now officially a part of PPMD!

https://www.duchenneconnect.org/index.php?option=com_content&vi...

 

https://www.duchenneconnect.org/index.php?option=com_content&vi...

 

Ladies - here are 2 links to information regarding carriers and cardiac screening in Duchenne Connect.  I hope it's helpful~

Kathi

https://www.duchenneconnect.org/index.php?option=com_content&vi...

 

https://www.duchenneconnect.org/index.php?option=com_content&vi...

 

Ladies - 

I just put these up on another thread, but (just in case!), here are 2 sites in Duchenne Connect discussing carrier status and cardiac surveillance.  I hope it's helpful~

Kathi

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