Clinical and Echocardiographic Prevalence and Detection of Congenital and Acquired Cardiac Abnormalities in Girls and Women with the Turner Syndrome

Abstract

The prevalence of congenital and acquired heart disease in patients with the Turner syndrome (TS) is based on historic cohorts who underwent imaging before the advent of modern day echocardiography. Recent small studies suggest a higher prevalence of cardiac defects. We reviewed clinical and echocardiographic data on 564 girls and women with TS to assess the prevalence of cardiac defects. Echocardiographic review on a subset of this population was performed to assess for diagnostic limitations of echocardiography in assessing for congenital and acquired defects in this patient cohort. Bicuspid aortic valve was present in 39%, aortic coarctation in 21%, and some forms of structural cardiac anomaly in 56%. Failure to perform a complete congenital echocardiogram with suprasternal and high right or left parasternal windows was associated with failure to identify congenital and acquired cardiac defects. In conclusion, major cardiac defects are present in the majority of patients with TS. Echocardiographic technique can be optimized to avoid missing cardiac lesions of potential hemodynamic significance.