Prevalence of cardiovascular malformations in Turner's syndrome
Turner's syndrome is a genetic abnormality in females and the karyotype can be monosomy X (45,X), mosaic monosomy X, or a structural abnormality of the X chronosome. The syndrome is characterised by shdrt stature and gonadal dysgenesis, and is associated with a number of congenital abnormalities including cardiovascular malformations. In published series of Turner's syndrome the percentage of those with cardiovascular malformations has ranged from 17% to 47%; aortic coarctation and bicuspid aortic valve being the most common lesions.
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The purpose of their study was to establish the prevalence of cardiovascular malformations and investigate any possible associations between the various genotypes and cardiovascular malformations. One hundred and seventy nine of 393 females who had Turner's syndrome diagnosed in Denmark were examined . Complete chromosome analysis was available in all cases .