Turner's Syndrome heart risks

Posted By  CCF CARDIO MD - MTR on March 10, 1998 at 14:49:17:

In Reply to: Turner's Syndrome heart risks posted by wendy deluca on March 03, 1998 at 20:24:04:

: My 9 year old daughter Mary, has Turner's syndrome and is the 45X with ISO Y in 1/2 of her cell line.  I was told about this when I was 18 weeks pregnant with her.  Recently I contacted the American Academy of Pediatrics for their standard of care for Turners syndrome.  They in turn sent me a list of yearly tests that Mary should have.  The echocardiogram was in that list.  When I asked my HMO to do these tests since she had never had them they argued that Mary has shown no indication of heart trouble and it would be silly to do the tests.  
  Mary had only seen and endrocrinologist once in her life until January of this year.  They agreed that Mary does not need these tests yearly unless she develops trouble.  Since one characteristic of TS is disecting arorta I feel that we should be much more cautious.  
  Am I over-reacting?
  ***@****

[CCF Cardio MD - MTR]

_
Dear Wendy, thank you for your question.  This is a difficult question to address but I'll
first elaborate on Turner's Syndrome to try to provide you with some more information and
then address surveillance testing.  Among patients with the 45X chromosonal abnormality,
cardiac defects are present in 20-50% of patients.  The most common defects are coarctation
of the aorta (a narrowing of the aortic arch that can predispose to aortic dissection or
a tear in the aortic wall) and a bicuspid aortic valve that is narrowed and can present
with problems later in life.  The other common defect is partial anomolous pulmonary
venous drainage where the pulmonary veins returning blood to the left side of the heart from
the lungs are misconnected to the right atrium. In your daughter's case, a thorough exam
by a pediatric cardiologist would be the best place to start.  A cardiologist could
suspect any of these conditions by listening to the heart and by checking blood pressure
in the arms and legs.  Tests would then be dictated by the cardiologist.  I suspect your
HMO would be willing to do this because it would cut down on unecessary testing.  But, you
may need a referral from your primary pediatrician.  It's hard to predict whether your
daughter is at increased risk of complications like an aortic dissection but hopefully,
a pediatric cardiologist could address some of your concerns.  I hope this information
is useful.
Information provided in the heart forum is for general purposes only.  Specific diagnoses
and therapies can only be provided by your physician.