Anyone have connective tissue disorder and BAV?

[Guest]

I'm new to this forum. Not really sure what category to place this post. This is not a happy post. I'm struggling to find out why BAV occurs. Is it a connective tissue disorder? Does anyone on this forum have Marfans or Elhers Danlos syndrome? I don't have a valve problem...just a heart that has been shattered in a million pieces.

My son had BAV. Undiagnosed BAV. Also note I said he "had" BAV. My son was a very healthy 33 year old young man. However he was very tall...6'3" only unusual because his dad is 5'7" and I'm 5'6". So makes me wonder if he possibly had Marfans.

My son never had a murmur. His last chest xray was in 2013 which was fine, he never had an echo done, there never was a reason for one.. He never had any symptoms of any cardiac issues. However, on Oct. 11, 2016 he was helping his father water the plants in the backyard and suddenly collapsed without warning and died...immediately. It took the Medical Examiner 15 weeks to finally tell us his cause of death. He died from Cardiac Arrest secondary to massive hemopericardium secondary to Aortic dissection secondary to Congenital Bicuspid Aortic Valve. My son never had any symptoms. No pain, no shortness of breath, no fatigue...nothing. Just fine one minute and dead the next. Needless to say, his father and I are devastated with grief and in shock. To make matters worse, we lost our only other child in an accident his senior year in high school.

The upsetting irony in this is I'm a Critical care Cardiac RN that works in the electrophysiology cath lab.

 

[cldlhd]

I'm so sorry to hear this, as a father of a 10 year old son I struggle to imagine what you must feel. From what I gather bav is thought to likely be a form of connective tissue disorder but I don't believe it's considered as severe as Marfans. The tissue disorder part is generally considered to be in the aortic root, ascending and the beginning of the arch but not all people with bav get an aneurysm. There aren't always symptoms. A failing valve , either stenotic or regurgitating, will probably give symptoms but an aneurysm likely won't. I pushed for a stress test and an echo after my father died in early 2014. I say pushed because I was only 44 and in pretty good shape , good bp, non smoker, good ekg etc..That's when they found my bav and aneurysm. If i listened to my gp I never would have found it. My condolences.

 

[pellicle]

Hi

Firstly let me say that I'm sorry for your loss. I think I understand a little of what you are going through as my wife more or less dropped dead with an undiagnosed brain tumor (GBM) after a flight home to visit her family. I (being who I am) blamed myself for not seeing the symptoms earlier (which even personal friends of mine who are surgeons have said they would not have put together either) and also found cold comfort from the advice of the neurosurgeon who told me that "even if we'd had earlier diagnosis we'd just be having this conversation a few months later".

I say this not to elicit any form of sympathy but to help you to see that I too struggled with finding answers. I am one trained in biochemistry and so things like DNA replication are what I studied. I spent a lot of time researching the genetic propensities, the sources of mutations which could occur, the possibility of influence from mobile phones, the list just goes on.

I was perhaps fortunate that I'd had my surgery for aortic valve replacement and aneurysm just 6 months before she died, and due to a surgical infection that arose 6 months after she passed away my focus was wrenched from that to actually surviving myself. There is a thread here on that should you wish to see it.

What I'm trying to say is that I understand your search for answers but the more answers you find the less they will hold any flavor for you. The answers will be for you like "the feel of the ocean on your face" Captain Barbossa in the Black Pearl; who said of the things he loved in life "I feel nothing"

Anita died just a few years ago now and perhaps like yourself her passing has been the biggest challenge I have faced.

Now instead of chasing why (as each answer often uncovers more questions) I now spend my time on remembering our love, what it gave to me and how it helped me to be who I am. I celebrate what I gave to her and the things we shared. I try my best fo focus on what good came of the love and the life together and couch that in the total certainty that we all die, its only when.

I give myself the permission to accept that had she been diagnosed she would have been subjected to hospitals and treatments and recoveries and relapses and treatments .... I understand well what that does because my best friend from childhood died of Hodgkins lymphoma when I was 21 (just days before his 21'st). I'd been with him through years of chemo and recovery. I witnessed my strong young friend turned into a husk that suffered agony.

I am truly glad I never saw that for my Anita.

I have done my best to focus on comprehending my grief in a way that fits my mind. I recommend you search for the same. For it is in the acceptance of the truth of death that beauty of the love we shared becomes the most significant thing.

Your story of how your son died shows me a small gliimpse of the happiness you must have shared. I know that right now that happiness will not be your focus, but hopefully it will become that. I know that Darryls mother went through a dark tunnel for twenty years after he died ... I hope that anything I can say to you can help you to shorten that journey.

I can say that my own situation with Anita was equally happy, so much so that its absence now still hurts and leaves me with an emptiness that only someone like you will truly understand. I understood that (perhaps like a mother) that the job of a husband was to provide strength for his wife, to facilitate her learning what she needed on her journey in life and to make her feel happy. I called that "doing a jewelers job".

My own "mental health" has been helped by me putting my words on grief into my blog. I hope that it helps others but fundamentally I write so that I clarify and make coherent my thoughts and epiphanies. For I've found my memory of the "difficult to grasp" almost intangible glimpses of wisdom need the written word for me to remember them and to re-embrace them as I need to.

I wish you peace.

 

[Paleowoman]

I'm sorry to read your sad message. But yes, I believe that bicuspid aortic valve is a connective tissue disorder, and certainly people with Marfan's syndrome often have bicuspid aortic valve and other heart related problems such as anurysm (the compose John Tavener was one famous person who had Marfan's and a lot of heart problems). When I was reasearching my biscupid aortic valve before I discovered this forum, I went to the Bicuspid Aortic Foundation: http://www.bicuspidfoundation.com/index.htm and discovered a lot there about it and related problems that often occur. Before I had surgery to replace my valve the surgeon said my heart could suddenly stop if I didn't have surgery "soon" - I've no idea why she said that, and my cardiologist and GP said she was not correct, but I certainly didn't have any symptoms and felt fit and healthy. The murmur of my valve, however, had been heard many years presviously and that was how they found out I had bicupid aortic valve when they did echocardiogram - otherwise if no one had listened to my heart - I'd had a regular respiratory infection and GP listened to my chest and picked up the murmur too - and if no one had subsequently done an echo, I would have carried on presumably until I had symptoms or damage to my heart. X-rays do not show bicuspid aortic valve. I do hope you find answers to your questions - when that surgeon told me my heart could suddenly stop, even though I was already on this forum, the helpline person at the Bicuspid Aortic Foundation sent me information about how that can happen.

 

[canon4me]

My ex-wife died of Glioblastoma Multiforme and I believe it is the most lethal form of cancer on earth. There are some, very few, in medical literature, that have received vaccine therapy that are 10 year survivors. That's as rare as surviving rabies.

 

[pellicle]

My ex-wife died of Glioblastoma Multiforme and I believe it is the most lethal form of cancer on earth.

That's my understanding too