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Aortic dissection, aortic aneurysm - The aorta - Life after an aortic dissection

A bit heavy but let's use this as a starter..

Genetic Basis of Thoracic Aortic Aneurysms and Dissections ("TAAD")
"In particular a gene called ACTA2 appears to be responsible for vascular (blood vessel) disease. The technical name for the mutation is G48V (DNA change G 190T in exon 3). In general, we have two copies of each gene, one from the father and one from the mother. If there is a mutation in a gene, then it may not work properly. In the case of the gene called ACTA2, mutations may lead to problems in the smooth muscle cells in the walls of blood vessels. When the gene is altered, these muscle cells may not contract as well as they should.

The blood vessel disease associated with mutations in the ACTA2 gene is passed on in a manner known as autosomal dominant. Autosomal means that males and females are equally likely to inherit a mutation, and equally likely to pass it on. Dominant means that a change in one copy of the gene is sufficient to lead to disease."
Please feel free to REALLY get some input into this.

(..And many thanks to Dan for his valuable input for this subject..)

Tags: ACTA2, TAAD, a, aneurysm, aortic, b, dissection, gene, genetic, type

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Old topic alert bump


Right, ACTA2 – 4 years on… what do you hear, what do you say?

OK, 3 years next month from my AD, the good old NHS have found the underlining cause, which of course is the ACTA2 gene mutation.  Progress has been relatively slow, but they’re now certain it’s the cause to my dissection and has been passed down through my father’s side.  Sadly during this time one family relation has died from an aortic dissection whilst another was operated on and informed she was within 2 weeks from dissecting, despite scans indicating she was ‘fine’. 

Others are being tested and those who have tested positive are being monitored and accessed.     


My specific mutation to be precise is known as R39C.  Which has been studied here in a German family 


Given the research/knowledge is only in its infancy really, there isn’t too much background to fall back on.  Other ACTA2 gene mutations have caused strokes/coronary/eyesight/aorta problems – basically any blood vessel in the body could in theory be at risk ….. Has anyone else been diagnosed with an ACTA 2 gene mutation?


It feels very much like the ticking time bomb has restarted its countdown ….

It might go off here, it might go off there, it might not go off anywhere – no one knows. 


The NHS has now passed us on to the Texas research team.   

Is Dan1961 still active on here?

Hi Kev A

Yes I'm still here but must confess that I haven't been active on the site for some time. I got an alert via email saying someone had replied to this topic so here I am. Don't know why I haven't logged in to this site for so long It's a great site! 

Regarding My dissection and Genetic testing since I posted my results here, There has been no change. My sister had a scan and was found to have normal dimensions in her aorta and renal arteries and has done nothing else to get a second scan for a follow up. My eldest Son still has not done anything to get himself checked out. He's still in the military, any time I've broached the subject it has fallen wayside and now if I'm totally honest I feel it has become a Taboo subject. I worry each and every day about it but cant do anything about it. Sorry to hear your news regarding family members Kev



Hey Dan.  Good to hear from you and thank you for taking the time to 'resurface' - something we're all guilty of no doubt, life goes on.  Yes, we have a close relation who is not prepared to be tested too.  Odds are he should be fine given the 50/50 odds and those who have already inherited the gene, someone has to be lucky!  Still, for a simple blood test, I do struggle to understand why not?   Are you still being monitored at all? 

Hey Nicola.  Are the NHS still active or is it case closed?

Anyone else out there being/been tested (Texas/NHS/Other)? 

Hi Again Kev  Yes I'm still being monitored, in fact i have a CT SCAN tomorrow. I suffered a type B Dissection from left subclavian down to femoral arteries. the Dissection ran into renal arteries too. I had a stent put in to regain blood flow to kidneys which was successful. Long story as is everyones :) but as things stand at the moment my aorta is at 5.4cm dilation at last scan so tomorrows scan will look at any increase in dilation (fingers crossed)  I wont get the results for a couple of weeks, 

Regards and best wishes 



Just to add my experience.  I had my AD out of the blue in August 2011.  I was referred to a geneticist (?) due to having 2 children.  He did some tests for fibrillin1, TGFBR1, TGFBR2, MYH11, ACTA2 and COL3A1.  Luckily all were negative but this was done on the NHS.  




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