Should my son and I get tested for Aeortic Stenosis?

[jenlor]

My aunt just died from Aeortic Stenosis. She was 65 and had a valve replacement (bovine tissue) about 5 years ago. I've been told this is a genetic disorder and family should get tested. I am 43 years old and I've always complained that I have very bad shortness of breath during exercise. For instance, during tennis, others ask me if I have asthma, which I don't. I'm not overweight. My son is the very same way. He is 13 and a few years ago I brought him to  a doctor because he gets soooo winded during basketball. None of his peers are this way and he is not overweight. The doc noticed an irregular heartbeat and he had an EKG and they said it came back normal. I'm really scared...what if the docs aren't correct about my son??? I don't know if I'm just emotional about my aunt or if something is telling me something.

[skydnsr]

I agree with everything that ed34 added.  It is possible for an echo, and even a stress test, to look normal when valve disease is present.  But if the doctor does not even do any tests beyond an EKG, there is little chance of detecting any valve problem that may be there.  Careful listening through a stethoscope can often detect a murmur signifying a valve problem, but younger doctors have not necessarily had that technique emphasized in their training.   The main thing for you to know from us is that no one here thinks you are silly for wanting to rule out a heart ailment for yourself and your son.  Aortic stenosis does have a significant genetic component, and both of you are symptomatic.  You may need to be very persistent, in order to have your fears put to rest.  Hopefully neither one of you has a valve or aorta problem, but you deserve to know.

[ed34]

Hi,  I'm not sure that your Doctor is being very wise here with your Son, especially given that he is so young. If a Doctor hears something abnormal and a single ECG picks nothing up, do you assume you was hearing things or made a mistake? An ECG is a snapshot of a very small amount of time and could miss lots of things. Perhaps your Doctor should have organised a monitoring device to be worn by your Son over a 24 hour period or longer. What about blood tests, how many did the Doctor take? and for what? I can't understand why your Doctor hasn't booked him for a simple stress test which will reveal a variety of problems if they exist.
I had many echo scans over a two year period which kept showing my heart as normal. The problem is, a standard test looks at the heart when relaxed, and most people have no symptoms when laying still. So in many cases the echo reveals nothing out of the ordinary. It can be used to show leakage in valves, but again, it isn't very accurate in many cases. Most of the population have a bit of a leak in one or more valves but it never causes a problem. If they are suspicious that a valve may be leaking too much, then usually a transesophageal scan will be requested which involves swallowing a thin tube with the sensor on the end. This gets much closer to the heart and gives a far more detailed image.
I think I would pester your Doctor for either a heart monitoring device over a 24 hour period or/and a stress test to be sure.
With regards to your own health, I have to ask the obvious question, so please don't take this the wrong way. How fit are you? How often do you exercise? Obviously if you don't exercise much and then attempt tennis, you will get short of breath quite quickly because your cardiovascular system is out of shape. Shortness of breath can obviously mean problems, but it can also be normal if you are unfit.

[skydnsr]

Forgive me for not saying before, that I'm sorry for your aunt's death.

[skydnsr]

It's a good idea to get tested, but an EKG isn't likely to show anything.  It takes an echocardiogram to look at the valve to see if it is leaking.  That is a more expensive test than an EKG, which is why some doctors don't automatically order it.  If the doctor you are seeing is not very familiar with aortic disease, he or she may not see the need for the more expensive test.  

The echocardiogram can look at the valve, and it also might be able to visualize the first part of the ascending aorta. To look at the rest of the aorta, a CT or MRI of the chest and abdomen is usually required.  But the echocardiogram will be the test given to rule out a leaking aortic valve.  The imaging of the rest of the aorta would be a later test, and maybe that won't be needed if the echocardiogram is normal and if no one in your family has had any troubles any farther along the aorta.

If you happen to live in a major metropolitan area, look for a thoracic aortic center at one of the bigger hospitals.  A specialist in thoracic aortic medicine would be the best doctor to help you with this.  If you don't have one of those locally (and there are very few of them), then your best bet will be to find a doctor who specializes in either congenital heart disease, valvular heart disease, or echocardiography.  .  

There are a lot of other things beside aortic stenosis that could account for your son's and your shortness of breath, but in my opinion, you're right that aortic disease should be ruled out.  You need some answers.  Good luck.