blue lips & hands & heart murmur

Hi I have a son at 18months who i am a little worried about as his lips and hands turn blue for no apparent reason he is not cold when this happens his breathing is fine and he doesnt even notice its happening the thing is it happened for about a week old but stopped up until about 7weeks ago, he has been 2 the hospital where we saw many doctors consultants etc he got kept in and the consultant wanted lots of tests done ie blood tests, blood pressure, esg etc as she discovered a heart murmur but another dr took over her shift and said he couldn't hear anything and he didn't do any tests just sent him home, so now he has an echocardiogram on fri and i dont know what to think any1 any advice as to what it could be? thanks sarah xx

[Marie M Gleason, M.D.]

Dear scottishmum:  If your son has been acting well and growing appropriately , the chances of him having a congenital heart abnormality that would result in him turning blue at times is extremely small.  It is particularly consoling that he seems unaffected by these episodes.  Most likely these are acrocyanotic spells (blueness of the extremities) that do not represent a true drop in oxygen level in the blood stream.  Occasionally there are unusual conditions that do cause a true drop in oxygen level, even at this age.  That is why it is important to have him evaluated by a physician, and have a pulse oximetry level checked (to assess the amount of oxygen in his blood at rest). The echocardiogram is probably a good idea to rule out a structural heart defect.  If your son was admitted to the hospital, they probably did check his oxygen level with pulse oximetry.  Do you know if that was done, and if the result was considered normal or not?    If it was abnormal, then he needs a thorough evaluation by both a pediatric cardiologist and a pediatric pulmonologist.  If the oxygen level was normal, then it would support the likelihood of these episodes being benign in nature.

[scottishmum]

His oxgen levels were fine at the hospital, but you also mention growing appropriately my son is about average weight and height i would say but a while back his weight kept dropping and at about 4months old he was nearly back down at his birth weight, i dont know if this is relevant but thought i would let you know, also would an overactive thyroid cause any of these symptoms as my gran had one and my son is constantly hungry as in eating every 15mins and has big portions he also never sits still ever, he runs everywhere? thanks x

[Marie M Gleason, M.D.]

That is good news that his oxygen level was normal in the hospital.  It is also good news that he is back to a normal weight, despite a drop-off when he was much younger.  See how it goes with the echocardiogram and follow up with your primary doctor.  Once they have those results they can decide if further evaluation with a specialist is necessary. Good luck.