Possible Marfan Sydrome echo results

[Drewsmom777]

I am a 27 yr old female with possible marfan syndrome (so the docs say). I had a spontaneous Pneumothorax (left) and was hospitalized for a week. During the hospitalization some other problems I had been having were questioned. Testing was done for certain auto immunes. We ruled out Lupus and RA. They noticed I have multiple skeletal features of Marfans and recomended I get an ECHO and see a Rhumatologist. I am on state insurence and am unable to see the Rhumatologist. I did get an ECHO. I have not spoke to my primary care doc ( will not see untill june 15th) I was wondering on the results of the ECHO.

1. Normal Left ventricular size and systolic function. There is suspcion of mild Hypokinesis of the anterior septal wall.
2. Trace tricuspid regurgitation

Do you feel these result are normal for someone my age? SHould I attempt to move my appt sooner? Should I look into a cardiologist?
State insurance doesn't allow too much, but with a possible cronic disease they do move a little faster. Thank you

[kaiann]

My son is 9. His latest echo revealed 1) effacement of the sinotubular junction on the aorta. The ST Junction is 1.48-1.83 cm. First part of the ascending aorta is 1.85 cm...mildly enlarged. Aortic sinuses measures 1.92-1.95. Aortic annulus measures 1.37 and 1.5 cm  2) thickened anterior leaflets of the mitral valve.

My son nor I have been diagnosed with marfans. Yet we share the exact mutation in the FBN 1gene. The geneticist and cardiologist plan to follow him annually, as a precautionary measure. Emerging MF?

My question is for any parent with a child who has been diagnosed with Marfan. Has your childs echo shown similiar readings.

[nickppatel]

You should definitely visit www.marfanlife.net. A lot of marf patients there who can answer your questions and help you quite a bit.

[bzmed]

You can go to www.marfan.org and get a lot of information.  Best of luck to you.

[Forum-M.D.-MJM]

Hello,

1. Normal Left ventricular size and systolic function. There is suspcion of mild Hypokinesis of the anterior septal wall. 2. Trace tricuspid regurgitation Do you feel these result are normal for someone my age?

Yes.  Remember these echo reports are made for medical use and insurance company use --  we report any possible findings and almost never have an echo that just reads normal. We always comment on something.



SHould I attempt to move my appt sooner?

There is nothing that you mentioned above that is concerning to me.

Should I look into a cardiologist?

Not based on the information above.

I hope this answers your questions.  Most people that we see in clinic with suspicion of Marfans syndrome do not have the syndrome.  Good luck and thanks for posting.