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Progressive AV heartblock due to Nkx2.5 gene defect
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Progressive AV heartblock due to Nkx2.5 gene defect

I would like to know more about the progressive AV heartblock due to Nkx2.5 gene defect. Trying to find out more information regarding my 16 year old son that is blacking out when stands up from a laying or sitting position. I posted a question about his symptoms about 4-5 days ago and got great information...thank you. Was wanting to know more about the AV heartblock that I mentioned above.
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773637_tn?1327450515
Dear Goober,

Before I answer your question, I’m going to explain some of the terminology that you are using for our other readers.  NKX2.5 is a gene that encompasses a specific set of mutations that has been found to be occasionally associated with several types of structural and functional cardiac defects.  These include atrial septal defects, pulmonary stenosis, ventricular septal defect, tetralogy of Fallot, Ebstein’s anomaly of the tricuspid valve, and progressive atrioventricular block.  Atrioventricular block occurs when the single electrical connection between the atria, the upper chambers, and the ventricles, the lower chambers, is partially or completely lost.  It is not guaranteed that atrioventricular block is progressive in these cases.  And, without seeing your son’s ECG or knowing more about what is happening with his heart’s electrical system, I’m not sure that he has atrioventricular block.  One of the things that we frequently see in teenagers is blacking out when getting up simply because they don’t drink enough fluid.  For starters, I would recommend that he take in four 8-12 ounce glasses of fluid and a salty snack on a daily basis, not skip meals, and limit his caffeine intake.  That may actually resolve his symptoms if he does not have heart block, especially if he is otherwise well and without symptoms.

If he does have atrioventricular block, however, and it does progress, he will need to have a pacemaker placed to ensure that his heart rhythm is appropriately maintained.  There are criteria from an electrical as well as from a symptom standpoint for pacemaker placement.  The hope is to keep from putting in a pacer until he meets those criteria, since pacemakers don’t last forever, and he will need to have them replaced periodically through his life.  I would anticipate that once he gets his pacemaker, though, he should do well, assuming there are no other structural or function problems with his heart.
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Hi
Iam the mom with hubby and 3 kids with NKX2.5. Does your son have any type of heart defect, like a small VSD or anything? That would make it more likely that he could have NKX2.5. But either way I would just call the Dr and ask for a 24 hr holter monitor to see whats happening when he has that blackout occour (try to get him to recreate the situation while on the monitor). Best wishes, Michelle
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773637_tn?1327450515
Jeffrey R Boris, M.D.Blank
The Children’s Hospital of Philadelphia
Philadelphia, PA
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