Back in January my 14 year old daughter was evaluated for breathing problems. Her PFT results are:
1. There is a proportionate decrease in FVC and FEV1 with a preserved FEV1/FVC ratio consistent with a Restrictive Lung Defect.
2. Reduced total lung capacity measured by Plethysmography suggesting a mild restrictive pattern.
3. Elevated residual volume suggests Air Trapping.
4. DLCO is Moderately Reduced.
Her adjusted DLCO value was 54% of the predicted value, her TLC was 76%, the FVC was 79%, and the FEV1 was 81%. She had a CT scan of her lungs and the results are normal. The machine was new, so it was updated technology, but they did not use contrast. When she starts to exercise she feels very tight in her chest, almost like someone is sitting on her, but she does not complain of arm or finger pain/tingling and asthma has been completely ruled out. The more she exercises, the worse her symptoms get, ie: lightheaded/dizzy, has trouble talking due to the breathing issue, weak legs and increased chest pain. The doctor did an ECHO last week and said they found mild Mitral Valve Prolapse with regurgitation. The doc also commented that her mitral valve was puffy. My daughter is also in the church choir and when she is singing, she yawns constantly. My daughter is also being followed by Genetics. They says she has a connective tissue disorder, but have ruled out Marfan and Ehlers-Danlos. We are waiting for chromosome testing to come back, but the doctor said she can't find anything to give an exact diagnosis. She has are hypermobility, a bladder diverticulum, corrected kideny refulx (valves broke down as she got older), ADD, etc. Do you have any ideas? Thanks so much for your time!!!
If your daughter is being evaluated by genetics and Marfans is in the differential there are a number of true collagen or elastin disorders that are rare, poorly described, and possibly responsible for her problem.
It may be helpful to have her oxygenation with exercise evaluated. Since her symptoms occur primarily with exercise, testing her during exercise seems appropriate.
Mitral valve prolapse (MVP) is seen more commonly in collagen and elastin disorders and may suggest other heart abnormalities.
I think your daughter would benefit from another opinion. If it is feasible for you to travel to Denver, Colorado please consider having your daughter evaluated by a pediatric pulmonologist at National Jewish Health.
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