PathFinder
Well-known member
Hi, guys!
I wanted to post such thread for long time ago, but I never had the time, so now it is
Bicuspid aortic valve is a condition whith very variable phenotypes - it can be found from the inafncy to people in their 11-th decade of life (e-medicine, 2006)! it may not cause any problems in the entire life, but in many cases causes very "bad thinks" to its owner.
Such problems include mainly regurgitation and stenosis, and not too rarely a aortic dilation with aneurism.
Bicuspid aortic valve carriers may live to their late 70's, 80's and 90's without concerning their congenital defect. Even more - some studies show the better survival of patients , operated after 60's to 80's, compared with the tricuspid owners.
However, having a BAV doesn't mean just having a defective valve and replace it. The Gene Engineering prove more evidently the deficiency of Fibrillin-1 proteine (or its mutation) as a major problem of the BAV. The point is, that the gene that encodes the Fibrillin-1 is the FBN1. It is very "responsible gene", because it controls the growth and tissue repairing in the organisms. It takes a major role in the development of the tissues and organs, in particular the vasculatory system, skeletal system and skin.
It is known, that the same gene is the causation of Marfan syndrome, Mitral Aortic Skeletal Skin phenotype and other connective tissue disorders.
There is some evidence of NOTCH1 gene-family, which corelate with the FBN1 (I'm not very educated in the biomolecular medicine). This NOTCH1 and FBN1 and Fibrillin-1 correlate with some Growth Factors defect (TGF b), which is responsible for the aortic development and indeed the whole left heart growth (incl. aortic valve, mitral valve and the connective tissue in the vantricles).
I have (had) a bicuspid aortic valve. Now I'm happy with my Sorin mechanical device, which till now works normaly. However I have been always diagnosed with mild mitral valve prolapse without regurgitation. My aortic measurments show no dilation, nor in the root or the ascendenta. Every Day I pray and thank to God, that I'm still not concerned with that, although my early AVR. I have always know (since I read medical literature), that the mitral prolapse is related to my congenital condition, in particular the connective tissue disorder, caused by the "crap genes" mensioned above.
I have read a lot of medical sources and I haven't found any corelation between the BAVD and the mitral prolapse. Probably it is more a result of more severe connective tissue disorder with just a presence of a BAV. Such disorder is Marfan syndrome. But the Marfan is related to skeletal disorders primary, and I am just the opposite side - I am strong, massive, with rounded head, with wide shoulders and good figure as proportions. And I have never have ocular problems. So - it is not marfan by me.
There is a syndrome, called MASS - Mitral Aortic Skeletal Skin phenotype. It is a condition similar to the Marfan, but little bit "softer". Its signs are a mitral valve prolapse, aortic root enlargement (but not very prone to become aneurismal), some skeletal defects (similar to the Marfans) and some skin disorders (stretchy skin).
Again, I don't have the skeletal disorder, but I have the mitral prolapse and have some little strinae on my lower back skin.
My cardiologists have never concerned other problems of my heart. They just follow the aorta, which haven't changed its size for 7 years (since my first echo in my life). They have noted the MVP, but have never discussed it like an issue and they have never disscussed any connective tissue disorder.
***
Today all I want to know is, whether my myocard is affected of the connective tissue disorder I have. The post AVR results are more than excellent: LV diametters are 30/45mm and the EF is 55-60% with normal contractile function, seven months post operation. I just pray for TWO LITTLE THINGS:
1. I only pray not have my myocard defected by the FBN1 gene disorder, because the Fibrillin-1 is a major component of the myocardial interstitium. That will allow me to have an easy life forward, without any complication caused by the native disease.
2. The most IMPORTANT thing for me...
I don't want to pass this crap to my children!!! NEVER! I don't know who can I talk to about the possibility of systemic connective tissue disorder in my organism, where the BAV is only a secondary disease. Do I have a MASS phenotype syndrome? And if I have it, what is the bigger chance to pass it to my children (because it is known, that such disorders have a 50% chance for inheritance in the child of a patient, while the BAV alone has some 15%).
Everything else is a piece of cake - the AVR, the anticoagulation, the normalization of late survival for AVR patients in the last years, even for younger patients (Loes Klieverik - AVR in young adults, 2007). These thinks don't bother me already.
Kind regards,
IVO
I wanted to post such thread for long time ago, but I never had the time, so now it is
Bicuspid aortic valve is a condition whith very variable phenotypes - it can be found from the inafncy to people in their 11-th decade of life (e-medicine, 2006)! it may not cause any problems in the entire life, but in many cases causes very "bad thinks" to its owner.
Such problems include mainly regurgitation and stenosis, and not too rarely a aortic dilation with aneurism.
Bicuspid aortic valve carriers may live to their late 70's, 80's and 90's without concerning their congenital defect. Even more - some studies show the better survival of patients , operated after 60's to 80's, compared with the tricuspid owners.
However, having a BAV doesn't mean just having a defective valve and replace it. The Gene Engineering prove more evidently the deficiency of Fibrillin-1 proteine (or its mutation) as a major problem of the BAV. The point is, that the gene that encodes the Fibrillin-1 is the FBN1. It is very "responsible gene", because it controls the growth and tissue repairing in the organisms. It takes a major role in the development of the tissues and organs, in particular the vasculatory system, skeletal system and skin.
It is known, that the same gene is the causation of Marfan syndrome, Mitral Aortic Skeletal Skin phenotype and other connective tissue disorders.
There is some evidence of NOTCH1 gene-family, which corelate with the FBN1 (I'm not very educated in the biomolecular medicine). This NOTCH1 and FBN1 and Fibrillin-1 correlate with some Growth Factors defect (TGF b), which is responsible for the aortic development and indeed the whole left heart growth (incl. aortic valve, mitral valve and the connective tissue in the vantricles).
I have (had) a bicuspid aortic valve. Now I'm happy with my Sorin mechanical device, which till now works normaly. However I have been always diagnosed with mild mitral valve prolapse without regurgitation. My aortic measurments show no dilation, nor in the root or the ascendenta. Every Day I pray and thank to God, that I'm still not concerned with that, although my early AVR. I have always know (since I read medical literature), that the mitral prolapse is related to my congenital condition, in particular the connective tissue disorder, caused by the "crap genes" mensioned above.
I have read a lot of medical sources and I haven't found any corelation between the BAVD and the mitral prolapse. Probably it is more a result of more severe connective tissue disorder with just a presence of a BAV. Such disorder is Marfan syndrome. But the Marfan is related to skeletal disorders primary, and I am just the opposite side - I am strong, massive, with rounded head, with wide shoulders and good figure as proportions. And I have never have ocular problems. So - it is not marfan by me.
There is a syndrome, called MASS - Mitral Aortic Skeletal Skin phenotype. It is a condition similar to the Marfan, but little bit "softer". Its signs are a mitral valve prolapse, aortic root enlargement (but not very prone to become aneurismal), some skeletal defects (similar to the Marfans) and some skin disorders (stretchy skin).
Again, I don't have the skeletal disorder, but I have the mitral prolapse and have some little strinae on my lower back skin.
My cardiologists have never concerned other problems of my heart. They just follow the aorta, which haven't changed its size for 7 years (since my first echo in my life). They have noted the MVP, but have never discussed it like an issue and they have never disscussed any connective tissue disorder.
***
Today all I want to know is, whether my myocard is affected of the connective tissue disorder I have. The post AVR results are more than excellent: LV diametters are 30/45mm and the EF is 55-60% with normal contractile function, seven months post operation. I just pray for TWO LITTLE THINGS:
1. I only pray not have my myocard defected by the FBN1 gene disorder, because the Fibrillin-1 is a major component of the myocardial interstitium. That will allow me to have an easy life forward, without any complication caused by the native disease.
2. The most IMPORTANT thing for me...
I don't want to pass this crap to my children!!! NEVER! I don't know who can I talk to about the possibility of systemic connective tissue disorder in my organism, where the BAV is only a secondary disease. Do I have a MASS phenotype syndrome? And if I have it, what is the bigger chance to pass it to my children (because it is known, that such disorders have a 50% chance for inheritance in the child of a patient, while the BAV alone has some 15%).
Everything else is a piece of cake - the AVR, the anticoagulation, the normalization of late survival for AVR patients in the last years, even for younger patients (Loes Klieverik - AVR in young adults, 2007). These thinks don't bother me already.
Kind regards,
IVO