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Gene Mutation NKX2.5 aka Tinman

My husband and 3 of my 4 kids have a rare gene mutation called NKX2.5 AKA Tinman. It causes various heart defects. My 13 yr old son has VSD, ASD, functional BAV and progressive complete AV heartblock and got a pacemaker 6 mths ago. My 11yr old DD has 2nd degree AV heartblock that is also progressive and will need a pacer in her teens most likely. My 9 yr old DD is heart healthy. My 3 yr old has a functional BAV and progressive AV heartblock currently only 1st degree. Most people progress to complete block in teens -20s and many (like my husband) fall into chronic Atrial fibrillation and he has a pacemaker too. People with this mutation may also have; progressive cardiomyopathy, tetralogy of fallot, hypoplastic left heart, pulmonic stenosis, anomalous pulmonary venous return, tricuspid valve abnormalities, Ebstein’s anomaly, interrupted aortic arch, L-transposition of the great arteries, mitral valve abnormalities, coarctation of the aorta, and double outlet right ventricle. If any one has been diagnosed with NKX2.5 (via blood test) please contact me, I haven't found anyone with the mutation to talk to. Thanks!

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Re: Gene Mutation NKX2.5 aka Tinman - by Barb - Oct 14, 2011 10:58am
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