Pediatric Heart Expert Forum
Dr. Boris, Dr. Gleason
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Questions in this forum are answered by pediatric cardiologists, cardiothoracic surgeons and anesthesiologists from The Children's Hospital of Philadelphia. This forum is for questions and support about pediatric heart problems, symptoms and topics such as heart murmurs, palpitations, fainting, chest pain, congenital heart defects (including management and intervention), fetal cardiology, adult congenital cardiology, arrhythmias and pre-participation athletic screening.

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Dr. Boris, Dr. Gleason

I wanted to post this to both of you in the hopes of helping a child that you may see presently or in the future. My daughter had a very severe form of Concentric Hypertrophic Cardiomyopathy (4mm walls) along with WPW, SSS, LBBB, RBBB, A-Fib and a Maheim Fiber. We were always under the impression that her HCM was a primary disease, but have just found out that her HCM combined with the WPW was a result of a very rare form of Glycogen Storage Disease (PRKAG2). This gene has yet to be given a name and affects the heart as well as the muscles, at least it does in my daughter's case. The lab at Harvard had only heard of one other patient who actually had this gene, but had never seen it themselves with over 1000 testings. If you ever see a child with HCM and WPW in combination, please have the genetic testing done on that child.I'm just trying to get the word out.    
773637_tn?1327450515
Dear Grendslori,

Interestingly, I follow a patient with hypertrophic cardiomyopathy (HCM) and a PRKAG2 mutation at CHOP, as well.  There is variability in the expression, or what would be called the clinical picture.  As well, not all patients with HCM and PRKAG2 mutations have conduction abnormalities, such as Wolff-Parkinson-White syndrome or Mahaim fibers.  We do recommend genetic testing for patients with HCM, as approximately 65-70% of mutations are able to be determined.  If it is positive, it is helpful to then look for the same mutation in first-degree relatives (i.e. parents, siblings, offspring).  This can then be helpful from a follow-up standpoint.  Unfortunately, there has been no demonstration that knowing the actual mutation is predictive of outcomes nor of response to medications, unfortunately.
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Hello again Dr Boris,

Thank you so much for the reply you sent back to me. I have to admit that I was pretty stunned to hear of your patient with the HCM and PRKAG2 gene. It was our understanding that this gene causes the combination of HCM with electrical issues, specifically WPW. So does one consider their patient to have Primary or Secondary HCM if they have this mutation? I. again thank you for your response.
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773637_tn?1327450515
It would still be considered primary, as a secondary hypertrophy is felt to be "secondary" to another condition like hypertension, aortic stenosis, coarctation of the aorta, etc.
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I know you are busy, Dr. Boris and I do not want to take away from thefamilies on this forum, but I just read your profile and saw you were at Keesler AFB. Did you know Goerge Russell Creech or John Brownlee? Creech took care of my girls at Lakenheath for several years and Brownlee took care of my daughter at Wilford Hall. My husband was a 20 year vet and we spent the last 10 years stationed at Randolph AFB......all the best doctors always seem to leave the Air Force!
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773637_tn?1327450515
So, I was at Landstuhl from 1997 to 2000, and knew of Dr. Creech, but never met him.  I was at Keesler as a resident when Dr. Brownlee was there.  I spent a lot of time with him, did a research project with him, and count him as one of my mentors and friends--he's such a great person.
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It's a small world, Dr. Boris......I consider John to be a good friend as well, had a lot of dinners with his family and my husband's been fishing with him! We have also both loved and owned Great Pyrenees. Take care!
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