Congenital Cardiovascular Malformations in Patients with Turner Syndrome

ABSTRACT

PURPOSE: Turner syndrome is recognized to be a disorder in which cardiovascular malformations are common. The aim of our study was to identify the prevalence of cardiovascular malformations in females with Turner syndrome and analyze possible associations with the various karyotypes in Korean patients. METHODS: The subjects were seventy seven females diagnosed as karyotype-proven Turner syndrome in Asan Medical Center. Complete chromosome analysis was available in all cases. The following data was collected; clinical examination, simple chest radiography, electrocardiography, echocardiography including Doppler, and/or aortic CT. RESULTS: The distribution of the various karyotypes was 45,X, 35%; mosaic monosomy X, 44%; and structural abnormalities of sex chromosome, 21%. In 15 (19.8%) of the patients cardiovascular malformations were found; bicuspid aortic valve abnormality (40%) and aortic coarctation (33.3%) were common. There was a significant difference in the prevalence of cardiovascular malformations between 45,X and the other karyotype groups (33.3% versus 12%, P=0.024). CONCLUSION: Missing X chromosome may be related to determine cardiac defects in Turner syndrome. All patients with Turner syndrome should receive full cardiologic evaluations. In particular, as to the presence of structural cardiac malformations or hypertension, repeated echocardiography or radiologic imaging is required to follow aortic root diameters.