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Forum Name: Miscellaneous Cardiology Topics

Question: Genetic Heart Problems


 JennyW - Mon Mar 17, 2008 7:19 am

I've been finding out about my family tree to better understand my background, mostly through stories told by my mum. I found out that she was adopted when she was very young and that her biological mother had an unknown heart problem. She was told about her adoption and mother's medical problems when she was young but never felt any pain or discomfort, she's currently 46 years old. The heart problem wasn't explained to her very clearly and I wanted to research on it some more incase it was ever an issue in the future.

Apparently the genetic problem is only passed down to next generations of females only and that either the heart itself or an artery swells up to the size of a small orange which can 'pop' and can be fatal. Now i'm no medical specialist but it does sound rather far fetching, I just want to know if this is a real known genetic's disorder and a little information about it. Can't really think of any further information you might need, my ethnic background is Chinese. Thanks.
 Dr. A. Madia - Wed Mar 19, 2008 8:36 am

User avatar Hi Jenny,

What you are describing looks like Thracic Aortic Aneurysm. An aneurysm is a balloon like enlargement of a segment of the Aorta, an artery or a part of the heart itself. It occures due to perogressive thinning and weakening of the medial layer of am artery called Media. The part of the artery becomes thin like a membrane and due to pressure of blood inside gradually gets bigger and takes a shape of a baloon. This is a very dangerous situation because the aneurysm due to its thin walls can burst any time leading to disasterous consequences. This type of aneurysms many times are genetic.

Another type of aneurysm is a dissecting aneurysm. Here, due to very high unchecked blood pressure the inner layer of an artery or aorta tears up and gets lifted from the inner surface., called 'dissection'. This becomes a 'Flap' and blood under high pressure burroughs beneath the flap causing even more dissection. This too is an emergency situation.

This first kind of aneurysm is found in families. There is a 21 % chance of a first degree relative to be affected of the condition in 'probands' of an aortic aneurysm. [Proband is the first member of a family to seek medical attention for a genetic disorder].

In addition, a situation called 'Marfan's Syndrome' [wherein a peron is extraordinarily tall, thin, has excessively long arms and fingers, has a high arched palate, and may also have aortic valvular and aortic disease. MS can also be familial.

The inheritance pattern in Aortic aneurysm is what is known as 'Autosomal Dominant' meaning only one parent need to have a genetic trait to propagate the disease in subsequent generations, as against 'Autosomal Recessive' wherein both the parents need to have the trait, so chances of propagation are less. As far as being transmitted only in females I don't think its the case. Only in 'Sex linked recessive' disorders the disease is propagated to a particular sex and that too Males!

I would strongly advice all your first degree relatives to get screened for Aortic Aneurysms.


Apurva


References:

1. Elefteriades JA. Natural history of thoracic aortic aneurysms: indications for surgery, and surgical versus nonsurgical risks. Ann Thorac Surg. 2002 Nov;74(5):S1877-80; discussion S1892-8. (http://www.hubmed.org/display.cgi?uids=12440685).
2. Albornoz G, Coady MA, Roberts M et al Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. . Ann Thorac Surg. 2006 Oct;82(4):1400-5. (http://www.hubmed.org/display.cgi?uids=16996941).
3. Biddinger A, Rocklin M,Coselli J et al. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997 Mar;25(3):506-11. (http://www.hubmed.org/display.cgi?uids=9081132).
4. Massachusetts General Hospital, Thoracic Aortic Centre. FAQ. (http://www.massgeneral.org/tac/faq/#12).





N.B. Opinion given in this forum are based on the information provided by the inquirer. There is no way for the medical professional to verify the accuracy of the information given in a net based forum.

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