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Re: Congenital Aortic Valve Deformity--Is it genetic?
Posted By CCF CARDIO MD-APS on February 13, 1999 at 20:02:48:

In Reply to: Congenital Aortic Valve Deformity--Is it genetic? posted by MuffyAZ on February 09, 1999 at 20:16:21:

Several years ago, while in my mid-20s, I was diagnosed with a heart an unusual sounding heart murmur.  EKGs were normal, and an echocardiogram (with and without Dopler) appeared to show a bicuspid aortic valve.  
Approximately 10 years later, my father (who also had an unusual murmur) was diagnosed with aortic valve deformity and stenosis (he was 70 at the time).  During the aortic valve replacement process, it was discovered that he had only ONE cusp on his aortic valve.  
My father's mother also had a strange heart murmur, but as she died in the early 1970s, a definitive diagnosis is not available.  I do, however, believe that she suffered from a congenital valve malformation (based on my history and that of my father).
Is this condition primarily an inherited one?  And where might I find data on the incidence of aortic valve malformation, including any data indicating a familial link?  I have to report on an inherited condition for a biological anthropology class, and since I have this condition (and in my family it does seem to be inherited), I would like to pursue this as my subject.
Thank you!

Dear Muffy,
The references from "shh" are a great place to start; as well "shh" is right on target in saying that although mostly seen as a "congenital" defect that develops in utero unrelated to any gene of the mom or dad, there does seem to be a link in some patients with bicuspid aortic valve and an abnormality of the aorta (main blood carrying vessel coming off the heart.)
You will get the most information at a medical school library with the assistance of a medical librarian, especially given that new "genetic" discoveries are happening every month or so and a medical library would be the most up to date so to speak.
As for your care, I hope that you have a regular cardiologist who is experienced at following patients with abnormal valve, as it is likely it will need repair and or replacement when you are older (generally in 50's, but not always so.)  Experience is important in that there is a delicate way of determining when each patient needs surgery, and since the advent of repair, cardioligists need to consider that repair is something to consider earlier than replacement surgery.  Currently there are only a few centers in the country that are doing valve repair with great success.  I speak of this knowingly as I tell you that our Chairman of Cardiothoracic Surgery is one of the pioneers of valve repair (i.e. Dr.Cosgrove.)  Also it is pertinent that you be counseled in taking prophylactic antibiotics for dental visits and in the event that you have any genitourinary procedures performed (basically, the dentist and any physician treating you for anything should be made aware of this by you.)
I hope this information is useful. Information provided in the heart forum is for
general purposes only.  Only your physician can provided specific diagnoses and therapies.
Feel free to write back with further questions. Good luck!
If you would like to make an appointment at the Cleveland Clinic Heart Center, please
call 1-800-CCF-CARE or inquire online by using the Heart Center website at
www.ccf.org/heartcenter. The Heart Center website contains a directory of the
cardiology staff that can be used to select the physician best suited to address your
cardiac problem.

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