Son with dilated aortic root and Ehlers Danlos

I have a 16 year old son who has been clinically diagnosed with Ehlers Danlos Syndrome.  His symptoms appear to be mostly either Classical or Hypermobility type. A geneticist ruled out Marfans Syndrome.  However, his most recent visit to the cardiologist indicated his aortic root has increased in dilation from his last visit a year ago.  It now measures at 3.5 and the cardiologist has put him on a beta blocker.

He continues to have chest pain frequently and now his blood pressure seems to be abnormal.  Last night the blood pressure was 125/56 with a pulse of 69.  Visits to the cardiologist in prior visits, the top number of his blood pressure has always been under 100.  Is this a normal reaction to a beta blocker medication?  Unfortunately, my son keeps alot of his pain to himself because he is in constant pain due to the Ehlers Danlos that he thinks it is just normal.  Over the past two years he has had four surgeries to repair an injury to his knee and a broken foot that wouldn't heal.  

Also, what could be a totally unrelated condition, I have also noticed he has alot of stretch marks on his back.  My son is 6'1" and is very skinny.  He has an older sister who also lives with severe arthritic type pain in her hips and knees, she is the one who actually received the first diagnosis of EDS.  

I guess my question is to anyone who has experienced this or has children with similar conditions.  What should I be watching for regarding symptoms or signs that may require another doctor visit.  I do not want to over-react because I know my son is concerned and I don't want him to live in constant fear.  I try not to bug him with questions about his pain level so instead I watch him closely.  I am open to any suggestions or help!  I am glad I found this forum :)

[kenkeith]

Q:"I guess my question is to anyone who has experienced this or has children with similar conditions".

Our sister forum has participating members that can identify with your medical concerns and experience from having children with health issues.  Sorry to hear of your son's condition, and thanks for posting on this forum.  Take care, and I wish you son well going forward.

http://www.medhelp.org/forums/Pediatric-Cardiology/show/302

Ken

[michellem66rn]

My 20 year old daughter has Ehler's-Danlos hypermobility type and has alot of the symptoms you describe your son as having. She is 6'0 tall and has quite a few stretch marks. The joint pain is constant, but, like your son, she considers it to be normal. She has taken a beta-blocker for years and it seemed to slow down the progression of cardiac complications until recently. A beta-blocker should decrease the heart rate and blood pressure, not increase it. He may need his dosage adjusted.
My daughter also has a congenital heart valve defect that, combined with the EDS, has caused her aorta and aortic root to dilate quite a bit faster than usual, compared to most EDS patients. Hopefully, this is not an issue with your son. Her cardiologist felt that without the valve issue she likely would not have had such a large change in her aortic root and aorta dilation. She just had open heart surgery a couple of days ago to replace the valve, repair the aorta, and aortic root and is doing very well.
Although your posting was a few months ago, I hope this is a little helpful in regards to some of your concerns. I ran accross your questions while sitting at the hospital searching for information regarding her surgery.

Michelle

[nickppatel]

Your son's cardiologist has failed you by neglecting to mention the most important breakthrough in this area in the past decade, which is angiotensin receptor blocker (ARB) therapy for people with dilated aortic roots.  They keep prescribing beta blockers, which are relatively worthless, and ignoring the enormous potential for ARBs in people with MFS, EDS, LDS, etc and other connective tissue disorders.

Please google "Marfan and losartan" as a starting point for your research, realizing that losartan is probably the weakest ARB out there and that others are much stronger.  I realize Marfan has been ruled out but the mechanism for action in these drugs appears to be the same for other connective tissue diseases.  

After reading up on the research, contact the clinic of Dr. Hal Dietz at Johns Hopkins for an evaluation or for a recommendation for a more knowledgeable pediatric cardiologist in your area.

Feel free to contact me with questions.
Nick