Association between Cardiac Malformations and Karyotype in Turner Syndrome - a Single Centre Study

Abstract Turner syndrome is characterized by growth failure, pubertal delay and different skeletal, cardiovascular and renal malformations. In this study we investigated the prevalence of cardiac abnormalities and the correlation with the karyotype in girls with Turner syndrome. Methods We conducted a retrospective cohort study of 85 girls with TS aged 0–17 years, divided in two groups: monosomy X and other X chromosome abnormalities (mosaicism and structural X chromosome abnormalities). Echocardiography was performed in all patients. Karyotype was determined from peripheral blood lymphocytes using the G-banding technique. Results Monosomy X was the most frequent karyotype (68.3%). 31% of patients presented different cardiac abnormalities. Bicuspid aortic valve and coarctation of the aorta were the most prevalent heart malformations (16.5% and 11.8% respectively). The girls with monosomy X had a higher prevalence of heart malformations than the girls with other chromosome abnormalities. Bicuspid aortic valve was more frequent in the monosomy X group. Conclusion Monosomy X is associated with a higher incidence of cardiac abnormalities. There were no differences in cardiovascular abnormalities between various karyotypes except the higher incidence of bicuspid aortic valve observed in patients with monosomy X comparing to those with mosaic karyotype and structural X chromosome aberrations.