Hey everyone! I was a member probably 10 years ago when we were really struggling with my husband's bicuspid valve and finding a doctor to treat him and who understand BAVs and in the process learned so much here from all of you. He has done very well but now I'm back. We have two children, and my youngest has recently been found to suddenly have scoliosis and "pigeon chest" and now there is sudden concern and we are waiting evaluation of Marfan's syndrome. Marfan's of course is hereditary and must present in a first degree relative but I am finding a bit of conflicting information about whether my husband's bicuspid valve could actually have been caused from Marfan's syndrome or not. I was wondering if anyone has any information on Marfan's and Bicuspid Aortic Valves and their relationship.
BAV and Marfan's?
- Thread starter Diane S
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pellicle
Professional Dingbat, Guru and Merkintologist
to my understanding, the two are linked statistically but as of yet we are uncertain of the specific genetics involved. Having said that I'm of the view that Marfans does indeed feed into BAV and Aneurysm, and the literature notes connections between BAV and Aneurysm ... so it would seem logical that each are expressions of a connective tissue disorder.
A quick google search revealed this:
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469203/
Bicuspid aortic valve (BAV) can be both sporadic and hereditary, is phenotypically variable, and genetically heterogeneous. The clinical presentation of BAV is diverse and commonly associated with a high prevalence of valvular dysfunction producing altered hemodynamics and aortic abnormalities (e.g., aneurysm and dissection). The thoracic aortic aneurysm (TAA) in BAV frequently involves the proximal aorta, including the aortic root, ascending aorta, and aortic arch, but spares the aorta distal to the aortic arch.
(*sorry about those words)The Mayo has this to say:
https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782
The most dangerous complications of Marfan syndrome involve the heart and blood vessels. Faulty connective tissue can weaken the aorta — the large artery that arises from the heart and supplies blood to the body.
- Aortic aneurysm. The pressure of blood leaving your heart can cause the wall of your aorta to bulge out, like a weak spot in a tire. In people who have Marfan syndrome, this is most likely to happen at the aortic root — where the artery leaves your heart.
- Aortic dissection. The wall of the aorta is made up of layers. Dissection occurs when a small tear in the innermost layer of the aorta's wall allows blood to squeeze in between the inner and outer layers of the wall. This can cause severe pain in the chest or back. An aortic dissection weakens the vessel's structure and can result in a rupture, which may be fatal.
- Valve malformations. People who have Marfan syndrome can have weaker tissue than normal in their heart valves. This can produce stretching of the valve tissue and abnormal valve function. When heart valves don't work properly, your heart often has to work harder to compensate. This can eventually lead to heart failure.
I hope that helps.
Hopefully someone who has more specific knowledge will toddle along soon and add to this.
Best Wishes
Thank you so much for taking the time to reply and share this information! It is all very useful, although so confusing
I have a feeling the answer could be, could not be is going to be a common theme for this question, only to be answered by genetic testing, if that even gives us the answers.
Hi @Diane S - I had bicuspid aortic valve (replaced nearly 6 years ago). I have some kyphosis and pectus excavatum (depressed sternum) - the pectus excavatum has always been noted by doctors though it's not bad enough to need any treatment for it. I've thought about Marfan's but there are other signs of Marfan's which I don't have, such as eye problems and being very tall with long thin arms and legs. My son has kyphosis or scoliosis and pectus excavatum too so they are obviously hereditary. He has no indications of bicuspid aortic valve - he's 30 now, by his age my BAV had been discovered.
You'll find infomation about the physical signs of Marfans on many of the websites about it - does your husband have the physical signs of Marfan's which would ibe prety obvious ? My cardiologist told me that there are other connective tissue disorders which aren't even named yet.
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Thank you all for your input! We do have some of the physical features but not all in our family. My husband is thin built but average height, my son is also skinny, lanky. Neither of them have extensively long arms, but they do have long fingers and toes, flat feet, nearsightedness, but all of these things can just be normal also. We have a cousin who has pectus excavatum, my son's is pectus carinatum, but could be caused from the beginning of scoliosis?? I have found a calculator for diagnostic criteria this morning, which is really what I was looking for. I will post it here in case anyone else comes along looking for the same answers as I have been. https://www.marfan.org/dx/score
DachsieMom
Well-known member
My understanding is they operate on Marfan’s Patients at a lower aortic diameter due to risk of aortic dissection, even without biscuspid valves.
