Turner syndrome (TS), a genetic condition affecting females characterized by the absence or structural abnormalities of one of the X chromosomes, has long been associated with various health challenges, including cardiovascular diseases. A recent study from Mansoura University has added to this knowledge by investigating the heart and blood vessel health of girls diagnosed with TS.
The study, conducted over two years, involved 45 girls with TS and 14 healthy girls as controls. It sought to measure the left ventricular (LV) function and the elasticity of the aorta, which are important indicators of cardiovascular health. Utilizing cardiac MRI technology, the researchers aimed to quantify impairments linked to TS.
One of the main findings revealed significantly impaired left ventricular Global Longitudinal Strain (GLS) among TS patients, measured at 15.6 ± 1.8% compared to the healthy control group’s 17.2 ± 1%. This difference was statistically significant with a p-value of 0.013, indicating potential early myocardial dysfunction even before clinical symptoms surface.
Alongside this, the study highlighted reduced ascending aorta strain and distensibility, measured at 33 ± 19% and 9.1 ± 5.5 mm Hg−1, respectively, both lower than control group values of 55 ± 17% and 13.9 ± 4.9 10−3 mm Hg−1 (p-values 0.004 and 0.013). This data points to functional cardiovascular abnormalities present even when structural changes are not yet visible.
Assessment of the girls’ health revealed significant insights: the average age of participants was 13.1 ± 3.2 years, and almost 25% of them had congenital heart defects like bicuspid aortic valve (BAV). Researchers found the mean LV mass to volume index was higher among TS patients, illustrating a disproportionate relationship where the heart's mass was larger relative to its volume.
TS patients experience not only structural heart problems but also increased risk for conditions typically linked with heart disease, such as hypertension or diabetes. These comorbidities may contribute to the observed cardiovascular strain issues, emphasizing the importance of careful monitoring and assessment of heart function.
Previous studies have produced mixed results concerning myocardial strain measurements using echocardiography, often limited by variability due to imaging techniques. This current study uses cardiac MRI's superior resolution to provide clearer insights. Notably, the findings signal not only the importance of continuous monitoring of children with TS but also raise questions about the intrinsic myocardial characteristics of the condition.
Looking forward, the retention of cardiac MRI as a key assessment tool could play significant roles not only for immediate evaluations but also for long-term prognosis and management of cardiovascular risks. The potential utility of these imaging findings as early markers for cardiac dysfunction underlines their clinical importance.
The study concludes by advocating for continued exploration of these functionally relevant cardiovascular parameters through longitudinal studies to validate their predictive power and improve the management of patients with Turner syndrome.
This study offers fresh perspectives on the dual necessity for structural and functional cardiac assessments for those with Turner syndrome, aligning with broader efforts to optimize care frameworks for this unique patient population.