My 39yr old husband has a gene mutation called NKX2.5, as do 3 of my 4 kids (all under 14yr, the 14yr has a pacemaker). It causes progressive heartblock until pacemaker is needed in teens or 20s (he waited until he had a 15sec block to get his 4 years ago). He also developed chronic a-fib for the last 4 yrs which is part of the mutation. He has dilated left and right artiums and a left artrim volume of 82 ml. He has a BAV and ASD, both are mild. He wants to get a albation (PVI) but our current EP says because 4 cardioversion attemps failed (he never got a NSR) and the fact that he has been chronic for several years and the englarged LA he wont do it. We want another opinion. What do you think? Since my hubby is so young he hates to live the rest of his life like this. He is taking beta blockers which causes impotence as well. And he wont take coumdian because he is a heavy drinker and rides a motor cycle. Do you think he will die young? Iam afraid for him. Thanks
As you know, that gene mutation is extremely uncommon. Thank goodness for modern science and the ability to diagnose it in your husband and children. As you know the presence of chronic atrial fibrillation and atrial dilatation increases the risk of a thromboembolic event compared to someone who has NSR. Clearly, treating with coumadin or returning to NSR would be best for your husband to reduce the risk of stroke. The risks and benefits of coumadin therapy must be carefully weighed in this situation. Its a tough decision given your husband's life style. Hopefully, with time, technology and medications will improve to permit better treatment of this arrhythmia
Thank you, have have booked a second consult with another Dr in another clinic. We hope for better news from him. Otherwise we may try flying to see Dr Natale in CA. I have heard he is excellent and has cured chronic a-fibbers.
I pray for more medical info on this mutation in the future, for my kids and grandkids sake as well.
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