Congenital Heart Defects?

[RunningWild]

When I first went to my PCP, I thought that my shortness of breath, fainting, and exercise intolerance was possibly related to a congenital heart defect that had gone unmonitored for 6 years.

I'm wondering if anyone else has heart defects, and if their POTS symptoms could be related to problems from those.

I was told after multiple cardiac tests that my heart is structurally sound (um, how can it be, if i have holes and narrowed valves, leaky valves, etc)- but I'm wondering if this would be worth a second opinion...

I have pulmonary stenosis, tricuspid regurgitation, and a PFO with atrial septal aneurysm.

I have heard that mitral valve prolapse is common among many POTSies, but wasn't sure if it extended to other heart defects.

[rubytuesday]

I am an EDSer. My DS was diagnosed (inadvertently) with probably congenital dilated aorta at age 34. My echos show MR, TR, and a little stenosis/pericardial effusion. I'd just asked my cardiologist if the echo was sufficient given my EDS and DS's history. I thought it would be but he ordered CT scan of aorta from chest to pelvis. (DS's was picked up by MRI). So I suppose what I am saying is that it is not exclusive to POTS but there can be other underlying causes.

[Serbo]

Hi Ruby

Just wondering what type of EDS you have?

I have III, but i do wonder if i cross over. i seem to bleed really easily. most recently i have been waking up with nosebleeds, i think due to being out in the cold a lot and i wonder if thats has upset my throat or something.

i some times feel a fluttering or pulsing in different areas of my abdomen so i do wonder about aneurism. I mentioned it to my EDS doc and he looked at me like i was a weirdo. he says you don't see it in EDS III.

On the subject of congenital heart defects, yes i was born with an extra nerve pathway in the heart which caused arythmia's and had to be removed. Apparently there's no link between that and eds/pots though.

[Shiner Kitty]

I just found out last month that I have a congenital heart defect(s) too. I'm 41. That echocardiogram at a local hospital showed a patent foramen ovale (PFO) or Atrial Septal Defect (ASD); they couldn't tell how large the hole was on the echo and a larger hole would be an ASD. It also showed a Redundant Interatrial Septum (which from what I read may be the same thing as an interatrial septal aneurysm and may be an atrial septal aneurysm (ASA)), trace mitral regurgitation, trace tricuspid regurgitation, and tachycardia 100-126 throughout the study (due to POTS and Inappropriate Sinus Tachycardia). I had echocardiograms at a local hospital's heart and lung center in 1996 and at the Mayo Clinic, MN in 1998. They didn't find anything structurally wrong with my heart then. The doctor even came out and checked me himself at Mayo just to be sure I didn't have mitral valve prolapse, etc. I was assured at Mayo that my echocardiogram was normal and that my heart arrhythmias were caused by my autonomic nervous system. Other doctors had sometimes heard a heart murmur prior to those echocardiograms. On my most recent echo she saw thickening in the wall of my heart, and she was very concerned. Then she got permission from me to do a saline contrast bubble study (some of the images were suboptimal quality, though). The cardiologist said the other echos didn't show the congenital defects because I didn't have a bubble study then, but why didn't they see the thickening then if I always had it?

I have had all kinds of heart arrhythmias for years, shortness of breath, chest pain, severe chronic migraines with aura, tachycardia, exercise intolerance, dizziness, and on and on. The cardiologist that I saw last month basically acted like I was wasting her time for even being there. She kept asking me why I was there with an annoyed tone. I told her more than once that my pcp referred me because she was concerned about 3 abnormalities found on my echo and that I have POTS, heart arrhythmias, and Ehlers-Danlos Syndrome, etc. She still kept asking why I was there! She didn't look at any of my symptoms that her staff had noted during a long phone interview prior to my appointment or any of my diagnoses, and she doesn't ever want to see me back again. I'm sure, as usual, that she didn't know about any of my medical conditions. She only said that migraines can be associated with PFOs, but fixing the PFOs doesn't cure the migraines (I read that it does for some people). She also said I'm at increased risk of a stroke. That was all she said. She acted like all the findings were insignificant. She was only going to tell me about the PFO until I pressed her saying my pcp said 3 things. I got the report myself and saw there were actually 5 abnormalities found. The cardiologist dismissed the regurgitations saying a lot of people have that. Well, a lot of people have diabetes or cancer too, but that doesn't mean that it's normal or that it doesn't cause symptoms! I got the impression that that cardiologist rarely actually sees patients. People who worked in the office kept asking why my pcp wanted me to see her and didn't I see another doctor in their office? After I got the report, I saw that she's the one who read the echocardiogram, so my pcp wanted me to see her about it. I probably should have seen someone else. After researching and reading about the possible complications, I do not plan to have the PFO closed. I would like to know if my symptoms are related to all of this, though, and I believe they are. While I read that experts say most people don't have any symptoms other than migraines and the possible strokes, I've read where some people with the defects do have symptoms similar to mine, but they're also told it's not related.

I also have a Chronic Fatigue Syndrome (CFS) diagnosis, and Dr. Paul Cheney has a theory about the PFOs being the cause of Chronic Fatigue Syndrome. He's found PFOs in almost 90% of CFS patients. I'm not sure if this is the same article that I read, but this one does mention the PFO finding in CFS: http://www.prohealth...cfm?libid=16228 . Also, in this link www.cheneyresearch.com/topic/diastolic-dysfunction , Dr. Cheney says that he feels "strongly that the almost 90% PFO incidence in CFS is largely acquired with the onset of CFS and is not pre-existing except in perhaps 27%". So, if Dr. Cheney's right , did I acquire my supposedly "congenital" heart defects after the first two echocardiograms because of Chronic Fatigue Syndrome or did I have them since birth? I don't know, but I did have symptoms as a child, they just got a lot worse when I was older, so I would think that the first 2 echos missed them and I always had them.

I also was recently diagnosed with Hypermobility Syndrome, but I'm sure I actually have Ehlers-Danlos Syndrome. I have features of the vascular type, and I'm worried about that. The doctor who diagnosed the Hypermobility Syndrome really doesn't know about Ehler-Danlos Syndrome (EDS). He thinks everyone who has that has to have the stretchy skin, and many researchers say that Hypermbolity Syndrome is the same as the hypermobility type of EDS anyway. I don't have the stretchy skin, but my half-sister does and so do her kids. She also has mitral valve prolapse. There are other symptoms of EDS in my family, but none of them were ever diagnosed with it. I have wondered if the heart defects found are related to the EDS too, but I haven't been able to find a lot of people with EDS with those types of defects. I still suspect they are related.

Edited December 21, 2011 by Shiner Kitty

[rubytuesday]

Hi Ruby

Just wondering what type of EDS you have?

I have III, but i do wonder if i cross over. i seem to bleed really easily. most recently i have been waking up with nosebleeds, i think due to being out in the cold a lot and i wonder if thats has upset my throat or something.

i some times feel a fluttering or pulsing in different areas of my abdomen so i do wonder about aneurism. I mentioned it to my EDS doc and he looked at me like i was a weirdo. he says you don't see it in EDS III.

On the subject of congenital heart defects, yes i was born with an extra nerve pathway in the heart which caused arythmia's and had to be removed. Apparently there's no link between that and eds/pots though.

I have EDS III, too, and have been hemorrhager (Delta Granule Storage Pool Deficiency) life long. Before science came up with recent way to test for this particular bleed, the hemeoncologist just clumped me into VonWillebrand's. The treatment for both so far are the same. My cardiac specialist in dysautonomia is the one who picked right up on it (ordered the test there at the University's lab and said it was one of it's lab staff that designed the test). I have to see hemeoncologist now (have been on soonest available list since Nov--fitting me in near end of Jan.) to give official treatment plan for the hemorrhages. Cardiac specialist thought EDS plays a role in my blood/fluids pooling in my legs (lax muscles and venous structures)--that dictate when I have to take Bumetadine to get removed.

POTS is not rare in EDS. In fact when I told DS who was stationed in Iraq this spring about my dx of POTS, she (being in medical field) sent me a link to www.inspire.com. There is an Ehlers-Danlos support group (and it has break down by category of interest or general). The link she sent me was a blog about EDS/POTS.

Hope that helps. Lots of good information/good members there.