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- When to perform cardiac imaging in patients with TS?
Baseline electrocardiogram, echocardiography, and cardiac MRI are recom-
mended in all patients with TS at diagnosis. In children, cardiac MRI can be
delayed till the age when the procedure can be performed without sedation.
However, if echocardiography fails to adequately visualize aortic valve, aortic
arch, or pulmonary veins, cardiac MRI can be done with sedation. Cardiac
echocardiography and MRI should be repeated every 5–10 years thereafter, if
the baseline evaluation was normal. More frequent monitoring is required in
patients who have hypertension, ETA, aortic dilatation, or those planning
pregnancy.- Why to perform cardiac MRI in patients with TS?
Cardiac MRI is more sensitive than echocardiography for the detection of
coarctation of aorta and can detect partial anomalous pulmonary venous con-
nection (PAPVC), persistent left superior vena cava, and elongated transverse
aortic arch which are not easily detected on echocardiography.- Does karyotype help in predicting the risk of cardiovascular abnormalities
in TS?
Yes. Cardiovascular defects are present in 30–39 % of patients with a karyotype
45,XO, while they are present in 24 % of patients with mosaicism and 11–12 %
in those with structural abnormalities of X chromosome.- What is the growth pattern in patients with TS?
Short stature is the most consistent phenotypic abnormality in patients with TS
and is virtually present in all. Growth failure in TS begins in utero and these
newborns are born small for their gestational age with a median height SDS of
−1.17. They continue to grow slow during infancy and childhood, reaching a
height SDS of −3 by the age of 3 years. In addition, they lack pubertal growth
spurt, and therefore, the average adult height of an untreated individual with TS
is 20 cm shorter (−3.2 SDS) than normal women of the same population
(Fig. 8.9).8 Turner Syndrome