Abstract
Turner syndrome patients partially or completely lack the X chromosome. 1 - 2500 female live births are affected. Clinical features include webbed neck, short stature, broad chest etc. Bicuspid aortic valve disease (BAV) occurs in more than 30% of Turner syndrome patients causing significant morbidity and mortality. We aimed to establish a more reliable estimate of the prevalence of BAV in Turner syndrome. PubMed, Embase and PsycINFO databases were searched until 2022. Review Manager (RevMan 5.4.1) and the JASP software (0.16.00) were used for meta-analysis. 15 studies with a total of 3189 patients were combined. The pooled prevalence of BAV in Turner syndrome was 22.0% (95% CI: 15.0% - 29.0%). Sub group analysis by 45, X0 karyotype and age had prevalence of 24.0% and 8% respectively. The studies had high heterogeneity and possible publication biases. In summary, the study established that the prevalence of BAV in Turner syndrome patients diagnosed by echocardiogram, CT and MRI scans, is 22.0%, and 24% in patients with true monosomy 45, X0 karyotypes. Routine BAV exam should pay particular attention to monosomy 45, X0 karyotype patients, and where possible, CT and MRI should always accompany echocardiography for BAV screening, especially for pediatrics.
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