Cardiovascular problems in Turner Syndrome.

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Although not necessarily in the realm of an endocrinologist’s care, problems such
as aortic dissection are of high importance.
COVER STORY
Cardiovascular problems in Turner syndrome are a
major concern
Endocrine Today, December 2008
Since Turner syndrome was first described in 1938, pediatric
endocrinologists, cardiologists and other specialists
have done extensive
research to better understand the disorder and improve quality of life for
patients. Many
advancements in the treatment of the disease have been made; at
present, for example, growth hormone therapy
can increase final adult height in
women with Turner syndrome, and assisted reproductive techniques can help
women
achieve pregnancy.
However, there is still work to be done to improve care for patients
with Turner syndrome, and there are some
known issues in the disease that are
being examined. One such issue is the increased risk of certain cardiovascular
problems, and although rare and perhaps outside the scope of an
endocrinologist’s treatment for the disease, aortic
dilation, dissection
and rupture remain major concerns for experts caring for girls and women with
Turner
syndrome.
“Endocrinologists don’t necessarily have anything to do with,
say, the treatment of cardiovascular problems, but
they have to make sure that
it gets done and that the patients get referred,”
Paul Saenger, MD,
MACE,
professor
of pediatrics, Albert Einstein College of Medicine, told
Endocrine Today
. “Many of these patients with Turner
syndrome
see adult endocrinologists and never get an MRI done because [the
endocrinologist] doesn’t think
about it. Then, the patient gets pregnant
and they run into problems.”
For this reason and others, a multidisciplinary approach to treatment of
Turner syndrome would help provide the
best possible care for these patients.
Cardiovascular system concerns
Along with endocrine advancements in treatment for Turner syndrome
— such as
GH for height and estrogen replacement therapy for pubertal
development — has
come an increasing realization that Turner syndrome
carries higher risks of
cardiovascular disease and events. The occurrence of
aortic dilation, dissection or
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Paul Saenger, MD,
MACE, is Professor or
Pediatrics at
Albert
Einstein College of
Medicine, N.Y.
Photo by J. Torres
rupture is one of the major concerns in Turner
syndrome, and is associated with
other risk factors including aortic valve
abnormalities, aortic coarctation or
dilatation, and systemic hypertension.
Research on the frequency of aortic dissection or rupture can be found
in an open-
label, multicenter, postmarketing surveillance study called the
National
Cooperative Growth Study (NCGS). The NCGS was established in 1985 by
Genentech as a means of monitoring safety and efficacy of its GH products
adverse events in the population of patients with Turner
syndrome in the NCGS.
The results were published in
the Journal of
Clinical Endocrinology and
Metabolism
that appeared online in November
2007.
Through June 2006, 442 adverse events were reported, including 117
serious
adverse events. Events known to be related to Turner syndrome were
detailed; five
of the seven reported deaths in the Turner syndrome population
were due to aortic
dissections or ruptures. Importantly, the incidence of
aortic dissection or rupture
was “likely unrelated to rhGH” therapy;
“it is difficult to define the role, if any, of GH therapy in the cardiac
events described,” the researchers wrote.
What more
needs
to be done to
improve care for
patients with
Turner
syndrome?
Another clue into the aortic dissection rates in Turner syndrome comes
from a study by
Claus
Gravholt, MD,
et al, published in 2006 in
Cardiology in the Young
. The researchers in this
study in Denmark
and Sweden found that aortic dissection occurred at a rate of about 36 per
100,000 person-years in Turner syndrome compared with six per 100,000
person-years in the
general population.
Clinical practice guidelines for the care of girls and women with Turner
syndrome were
released online by the Turner Syndrome Consensus Study Group in
the Journal of Clinical Endocrinology and
Metabolism
in October
2006. According to the guideline’s authors, “recent studies suggest a
broader spectrum of
cardiovascular system abnormalities in Turner syndrome than
previously recognized.” The optimal care of
patients with Turner syndrome
includes significant attention paid to the cardiovascular system and
cardiovascular
defects.
Among many other points made in the guidelines, aortic dimensions should
be regularly ascertained using MRI
among patients with hypertension, and
education of both the patient and parents should be undertaken if there is
an
increased risk of aortic dilatation or dissection. “Patients with a wide
aortic root or aortic dilation should also
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not engage in contact sports,”
Saenger added.
According to Saenger, the sensitivity of MRI in the detection of
cardiovascular problems in patients with Turner
syndrome is superior to
echocardiography. “Therefore,” Saenger said, “an MRI is the
method of choice for all
patients past the age of 10 years.”
Carolyn Bondy, MD,
chief of the Developmental Endocrinology
Branch, National Institute of Child Health and
Human Development and primary
investigator of the National Institute of Health Longitudinal Turner Study,
said
that “recent studies screening girls and women with Turner syndrome
using cardiac MRI have found significant
cardiovascular abnormalities that were
not detected on routine transthoracic ultrasound, and for this reason it is
now
recommended that all individuals with Turner syndrome have a screening MRI,
especially before attempting
pregnancy.
“Moreover, in assessing ascending aortic diameter to estimate if
the individual is at increased risk for aortic
dissection, it is now clear that
we must normalize for the small body size of many women with Turner syndrome,
since women have experienced dissection at diameters in the normal range for
average statured adults, but which
are actually significantly dilated for their
small body size,” Bondy said.
Risk during pregnancy
According to a paper by the Practice Committee of the American Society
for Reproductive Medicine published in
Fertility and Sterility
,
women with Turner syndrome may have a 2% or higher risk for aortic dissection
or rupture
during pregnancy, and their risk for death may be increased as much
as 100-fold.
Based on these figures, the committee recommends the screening and
surveillance of women with Turner
syndrome for cardiovascular irregularities.
According to their recommendations, optimal surveillance of women
with Turner
syndrome during pregnancy includes treating hypertension and consultation with
a cardiologist and
periodic echocardiography. Women with aortic root diameter
< 4="" cm="" may="" attempt="" vaginal="" delivery="" under="" epidural="" anesthesia,="" and="" women="" with="" baseline="" or="" progressive="" root="" dilation="" should="" have="" elective="" cesarean="" delivery="" prior="" to="" the="" onset="" of="" labor="" under="" epidural="" anesthesia,="" according="" to="" the="" committee.="">
Michael Silberbach, MD,
professor of pediatric cardiology at
Doernbecher Children’s Hospital at the Oregon
Health and Science
University, expressed concern that the cutoff of 4 cm was too high for women
with Turner
syndrome, given their smaller size.
The Turner Syndrome Study Consensus Group made suggestions in their
guidelines as well.
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“Before contemplating spontaneous or assisted pregnancy,
individuals with TS need a complete medical
evaluation,” the group wrote.
“Particular attention should be paid to the cardiovascular system, and
echocardiography, ECG, and MRI need to be performed before any attempt at
pregnancy.”
The guidelines listed a number of contraindications for pregnancy,
including history of a surgically repaired
cardiovascular defect, bicuspid
aortic valve, evidence of aortic dilatation (>3 cm) and systemic
hypertension.
Aortic dissection registries
The Turner Syndrome Society of the United States has created the
International Turner Syndrome Aortic
Dissection Registry. (
Click here to access the registry.
) This registry is a
means for patients, family members and
friends to report cases of aortic
dissection in Turner syndrome.
“We’re asking family members and friends to register people
that have had dissections so we can begin to
establish a profile and get the
information about EKGs, blood pressure and comorbid factors that are probably
contributing to the risk so that we can try to identify patients who are at a
higher risk,” said Silberbach, who is
also on the medical advisory board
of the Turner Syndrome Society.
Aortic dissection is also a well-known risk factor for patients with
Marfan syndrome. According to Silberbach,
much is known about the natural
history and profile of aortic dissection in these patients. With that,
questions
arise as to whether the defects of the vascular system in Turner
syndrome could be similar to those seen in
patients with Marfan syndrome.
“The thought is that there is an intrinsic abnormality of the
vasculature in individuals with Turner syndrome like
in individuals with Marfan
syndrome that causes different vascular abnormalities — such as aortic
dissection and
dilation and some of the other vascular abnormalities that they
have found,” said
Melissa Loscalzo, MD,
assistant professor in the
department of pediatrics, division of genetics, at the University of South
Florida.
According to Saenger, vascular abnormalities include dilation of other
large vessels. “This is not limited just to
the aorta,” he said.
“Gravholt showed in a paper that other large vessels, like the carotid and
brachial artery, were
wider.”
Compilation of aortic data
Additional data characterizing aortic valve disease is necessary.

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