rare heart condition

[joshcodyalex]

MY son is 8 years old with fabry's disease so he has a heart murmur well he also has pectus excavatum. when he went to the the heart doctor the did an ultra sound which indicated he has a heart valve connected to his lung and I was wonder if the pectus excavtum would cause this by pushing his heart and lung together and should I seek a second opinion on this. I'm very worried about this. thank you joshua's mom

[CCF-M.D.-RCJ]

joshcodyalex,



Thanks for the post.



Fabrys disease is associated with mitral regurgitation and aortic stenosis.  I'm not familiar with pectus excavatum being a manifestation of Fabrys, but pectus excavatum is also associated with mitral valve prolapse/regurgitation.



As to what the doctor meant by "heart valve connected to his lung", I can't imagine what that means.  I suspect that he/she misspoke, or that you misunderstood.



If you liked the doctor and trust him/her, then return to them for a more complete explanation.  A lot of people become so upset upon hearing about any problem, that they are unable to process the explanations offered after the initial diagnosis. If you didn't care for the doctor, or are concerned about his/her expertise, then by all means, seek a second opinion.



Best of luck.

[joshcodyalex]

They did not offer any explanations on this. my son's ecavatum id deep you can lay a golf ball in it