Cardiovascular abnormalities in patients with Turner syndrome according to karyotype: own experience and literature review

Abstract

Background: Cardiovascular diseases account for a threefold higher mortality in women with Turner syndrome (TS). It has also been suggested that the occurrence of these diseases is dependent on karyotype.

Aim: To assess the cardiovascular system by clinical examination, echocardiography and electrocardiography in female patients with TS, depending on karyotype.

Patients and methods: Thirty-four women with TS, aged 7-58 (35.2 +/-14.6) years, were evaluated. The patients were categorized into 3 groups according to karyotype: group 1 comprised 12 patients with monosomy X (45,X), group 2 comprised 19 women with mosaicism, and group 3 comprised 3 patients with structural aberrations of X chromosome. Echocardiography was performed using the Sonos 5500 machine, following the current standards.

Results: Congenital cardiovascular malformations were detected in 21% of TS women. Valvular heart disease was present in 50% of the entire study population, including aortic valve diseases in 24% and mitral valve diseases in 21%. The patients with mosaicism, more often than those with monosomy X, were overweight and had a tendency to higher incidence of hypertension, as well as thicker interventricular septum, and larger left ventricular mass on echocardiography.

Conclusions: Congenital cardiovascular malformations are more common in TS patients compared to the general population. There were no differences in risk factors and cardiovascular abnormalities between various karyotypes except for higher incidence of overweight and tendency to higher blood pressure, thicker interventricular septum, and larger left ventricular mass observed in patients with mosaicism compared to those with monosomy X.