Relatively young and otherwise healthy, a beloved husband and friend is admitted to hospital with a seeming stroke and dies the following day. In the meantime, a scan reveals an aortic dissection, yet the coroner remains reluctant to investigate further. Realising the dissection could be attributed to a genetic condition such as Marfan syndrome, and fearing the potential implications for the family, the deceased’s brother-in-law seeks Dr Child’s advice. Dr Child strongly recommends an autopsy, giving guidance how to preserve pieces of the past in order to determine the future for the family.

Q: My brother-in-law has died suddenly in his mid-forties. He was admitted locally to hospital with a suspected stroke, but it was realised there was more to this diagnosis. A scan revealed an aortic dissection. Very sadly, he died the following day. The coroner is unwilling to perform an autopsy. I have been reading of Marfan syndrome and of those who are asymptomatic before dying very suddenly of dissections. I am worried for his family, his children and indeed his brother who may be carrying the gene. Please can you advise me on how to obtain DNA analysis to confirm, or otherwise, my suspicions.

A: I was sorry to hear that you lost your brother-in-law in his mid-forties to suspected Marfan syndrome. You were wondering what to do to obtain a diagnosis, and also what the implications were for the family. He was married to your sister. In retrospect he was 6 foot 4 inches with a long, slim build, and wore glasses for poor eyesight. He was admitted to hospital locally with diagnosis of a stroke, but it was realised there was more to the diagnosis, and the scan of his chest revealed an aortic dissection. He died the next day. The coroner was not going to perform an autopsy but you felt quite rightly this needed to be done in order to confirm the diagnosis.

I have also put you in touch with the CRY Centre for Cardiac Pathology – (Cardiac Risk in the Young Centre for Cardiac Pathology) at St George’s Hospital, Tooting, London, and sent their instructions for preserving part of the spleen in RNase (RNA is the molecule essential to identifying genes) which can be requested by telephone. You should keep part of the spleen refrigerated until the fluid arrives. This can then be sent by courier to St George’s Hospital, and they will search for the genetic cause. The other possible source of information would be blood from the left ventricle which could be put in an EDTA (Ethylenediaminetetraacetic acid) tube and sent as well. This should all happen as promptly as possible, and next-of-kin consent obtained afterward.

There is a family history in that his brother is also tall, but of a sturdy build, and he has a 19-year-old son who is of concern as well. I would recommend that both of them have a local echocardiogram arranged by a GP, making four measurements of the aortic root to make sure the diameter is within normal limits. Then if a mutation is found in the fibrillin gene, that can be used to screen them genetically.

I am not sure where they live, but the GP should refer his brother and his son to their local regional genetics unit, with the echo reports. They will examine the men, take a family history, and come to a clinical diagnosis of affected or unaffected.

If you could forward this email to the doctor who is doing the autopsy, and also to your sister this would probably be very useful.

I wish you well in your pursuit of a clear diagnosis, so that the family can be screened thoroughly.

From your description of your brother-in-law’s parents, that both are alive, and neither has the same appearance it is probable he was the first one affected in the family as the result of a new mutation in a gene which causes aortic aneurysm.

The stroke would probably not have been a separate diagnosis but the result of dissection of the aortic root and arch, leading up into the arteries which supply the brain.

Please do keep in touch and let me know how you get on. If I can be of any further assistance, please do get in contact.

This sad story cements our resolve to Find the Missing 15,000.

The Marfan Trust is registered in England and Wales under charity number 328070 at Guy Scadding Building, Dovehouse Street, London SW3 6LY. Contact us at [email protected] or by phone on + 44 (0)20 7594 1605
Log in | Powered by White Fuse