Abstract

Turner syndrome (TS) is a rare chromosomal disease with increased cardiovascular morbidity and mortality. The aim of this study was to investigate the influence of physical activity and diet quality on cardiovascular morbidity in German TS women. An anonymous online questionnaire was established. The questionnaire was based on the 2020 WHO recommendations on physical activity and sedentary behaviour and included the 14-Item Mediterranean Diet Assessment Tool. In addition, TS patients were asked about existing cardiovascular conditions. In total, 83 TS women were included in the final analysis. The achievement of <600 Metabolic Equivalent-minutes per week for recreational activities was significantly associated with the presence of arterial hypertension (p = 0.006). High adherence to the Mediterranean diet was achieved by only 20.5% of TS subjects and tended to be inversely associated with the presence of lipid metabolism disorders (p = 0.063). Only 37.3% of TS participants received nutritional counselling. Given the increased cardiovascular risk, specific counselling for lifestyle optimisation may play an important role in the management of TS. Further studies are required to evaluate the effects of regular aerobic physical training and different nutritional programs on cardiovascular morbidity in TS.

Highlights

  • Turner syndrome (TS) is a relatively rare X-chromosomal disease, affecting approximately one in 2500–3000 female newborns [1]

  • TS is associated with increased cardiovascular morbidity: compared to the general population, diabetes, arterial hypertension, dyslipidemia, obesity, congenital heart disease (CHD), aortic dilatation and aortic dissection are more prevalent in TS girls and women [2,3]

  • Point-biserial correlation revealed no significant correlation between BMI and the presence of arterial hypertension (r = −0.218, p = 0.059), glucose metabolism disorders (r = 0.172, p = 0.127) or lipid metabolism disorders (r = 0.008, p = 0.947)

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Summary

Introduction

Turner syndrome (TS) is a relatively rare X-chromosomal disease, affecting approximately one in 2500–3000 female newborns [1]. TS is associated with increased cardiovascular morbidity: compared to the general population, diabetes, arterial hypertension, dyslipidemia, obesity, congenital heart disease (CHD) (e.g., bicuspid aortic valve, coarctation of the aorta), aortic dilatation and aortic dissection are more prevalent in TS girls and women [2,3]. Studies suggest increased arterial stiffness, which is considered an independent cardiovascular risk factor [4], associated with TS [5,6,7,8]. Cardiovascular disease is assumed to be the leading cause of death in TS patients, resulting in mortality that is threefold higher compared to the general population [9]. Physical activity has been shown to prevent cardiovascular disease and slow its progression if already present [10,11]. In 2020, the World Health Organization (WHO) updated its recommendations on physical activity and sedentary behaviour: adults are encouraged to implement at least 150–300 min of moderate-intensity aerobic physical activity or at least

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