CARDIOVASCULAR DISORDERS OF TURNER’S SYNDROME:
A REVIEW
Yuan S-M, Jing H
*Corresponding Author: Hua Jing, Department of Cardiothoracic Surgery, Jinling Hospital,
Clinical School of Medicine, Nanjing University, Nanjing 210002, Jiangsu Province, People’s
Republic of China; Tel.: +86-25-8480-1332; Fax: +86-25-8482-4051; E-mail: shiminyuan@126.com
page: 3
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CARDIOVASCULAR DISORDERS
Congenital Heart Defects. The most
commonly observed cardiovascular abnormalities
are congenital obstructive lesions such as bicuspid
aortic valve and coarctation of the aorta. Thus,
Sybert [18] found that more than half of the
cardiovascular malformations of TS were bicuspid
aortic valve or coarctation of the aorta alone or in
combination. Some 6.9-15.0% of adults with TS
have bicuspid aortic valves [16,19] and 5.5-20%
coarctation of the aorta [19]. The latter abnormality
in a female might be evidence suggestive of TS
and it is suggested that it should be surgically
corrected as soon as possible after being detected.
Moreover, malformations such as partial
anomalous venous drainage and aortic stenosis
or regurgitation are more common in TS than in
the general population [21]. It has been reported
that artial anomalous venous drainage occurred in
2.9% of TS patients [22]. Hypoplastic left heart
syndrome is a congenital disorder of the left heart
system that may present in TS, representing a high
mortality in spite of successful surgical correction
[23,24]. It has been reported that this anomaly is
more likely to be associated with karyotype 45,X
[25]. Hypoplastic left heart syndrome suggests
that this anomaly can be another expression of
the 45,X karyotype. Moreover, Ho et al. [26]
described the prevalence of vascular abnormalities
in TS including elongation of the transverse arch
(49%), aortic coarctation (12%), aberrant right
subclavian artery (8%), persistent left superior
vena cava (13%) and partial anomalous pulmonary
venous return (13%). They suggested that in utero,
centrally localized lymphatic obstruction may
contribute to these cardiovascular deformities in
TS. Kutay and Yakut [27] reported absence of the
right superior vena cana accidentally observed
during an operation associated with congenital
aortic annular hypoplasia and bicuspid aortic
valve stenosis in a patient with TS. In addition,
transposition of the great arteries is an alternative
rare association of TS, but only one case has been
reported [28]. The significant association between
neck webbing and the presence of bicuspid aortic
valve and coarctation in TS suggests a pathogenetic
connection between fetal lymphatic obstruction
and defective aortic development [29].
Aortic Dilation and Dissection. Aortic wall
disorders including aortic dilation and dissection
are infrequent in TS. Aortic dilation was observed
in 26.7-42.0% of the patients with TS [5,20]. The
location of the aortic dilation typically involves the
aortic root, but occasionally extending to the aortic
arch, the descending aorta, or at the repair site for
a previous coarctation of the aorta [15]. Compared
to the controls, the TS patients had larger diameters
of the aorta at the level of the sinuses of Valsalva,
the sinutubular junction, and the ascending aorta
[30], but descending aortic diameter and ascending/
descending aortic ratio were not [17].
The incidence of aortic dissection was estimated
to be as high as 40 per 100,000 in TS patients [31],
and this prevalence is increasing with age, and is
especially high during adulthood, pregnancy, or
delivery [5]. The predisposing risk factors for aortic
dissection in TS were estimated to be coarctation,
bicuspid aortic valve, and hypertension [32]. Dilation
is mostly commonly present at the ascending aorta
without potentially rapid progression, a similar
phenomenon to that being observed in the patients
with a bicuspid aortic valve without TS, showing
an even prevalence of 20-30% in both children and
adults [33]. Aortic dissection flap may occlude the
ostium of the right coronary artery, which requires
a right coronary artery bypass so as to restore the
blood supply to the ventricle. In this way, both the
mother and the child can be secured [34]. The risk
for aortic dissection or rupture in pregnant women
may be over 2%, and hence cause the patients death
with a 100-fold higher risk [35]. The occurrence
of fetal lymphedema, one of the common features
of both Marfan’s syndrome and TS, evidenced by
the neck webbing and a shield chest in TS [5], was
taken as the underlying etiology responsible for this
lethal complication [33]. The mesenchymal defect
in TS, somewhat a similar pathological change,
namely, cystic medial necrosis found in Marfan’s
syndrome [13], was hypothesized to be resulted
from an abnormality of the X chromosome, which
may ultimately affect collagen synthesis [5,36].
Hypertension. Systemic hypertension affects
30% of TS patients regardless of age, and no specific
cause can be identified in a majority of women
[37]. The hypertension can often be nocturnal
with decreased sympathovagal balance or tone and
elevated N-terminal pro-BNP in comparison with
controls, indicative of discrete systolic or diastolic
dysfunction [38].
Valvular Disorders. In addition to bicuspid
aortic valve, the valvular disorders that may be
present in TS include mitral valvular insufficiency,
aortic insufficiency, aortic stenosis, and tricuspid
insufficiency [39]. Furthermore, mitral valve prolapse
was more likely to be seen in TS patients than in the
general population, with a higher prevalence in the
non 45,XO than in the 45,X karyotype [40].
Cardiac Conduction and Repolarization
Abnormalities. In a case-control study including
100 TS patients, the occurrence of left posterior
fascicular block, accelerated atrioventricular
conduction, and T wave abnormalities were
significantly higher, the PR interval was significantly
shorter, and the QTc interval was significantly
longer in TS patients than in age-matched controls,
indicative of the potential impact of X chromosome
deficiency on cardiac conduction system [41].
Aneurysm of the Left Subclavian Artery.
Turner’s syndrome may be associated with an
aneurysm of the left subclavian artery, which were
large in size located proximal to the thoracic outlet as
indicated in the limited case presentations [42,43].
The histology of the surgical specimens showed
disruption of the elastic fibers and deposition of acid
mucopolysaccharide in the media with normal or
degenerative intima. These results may be helpful in
the understanding of the etiologies of such a lesion
in TS patients.
Coronary Artery Disease. It has been
suspected that TS patients are at greater risk of
coronary artery disease due to their significantly
higher blood pressure and levels of total cholesterol
and low-density lipoprotein fraction as well as of
lower high-density lipoprotein fraction compared
to controls [44]. The cholesterol levels were
significantly increased independent of age, body
mass index z score, or karyotype if it was untreated
TS [45], but decreased significantly during growth
hormone treatment [46].
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