Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy.

BACKGROUND

Cardiomyopathy is a significant cause of mortality in dystrophinopathy, and early detection and intervention are critical to reduce the disease burden. Currently, cardiomyopathy detection primarily relies on echocardiography and cardiac magnetic resonance imaging (CMR), which are inconvenient for paediatric patients and those in remote areas. Uric acid (UA) is associated with various heart diseases and serves as a biomarker of injury severity, but its level changes and connection with myocardial injury in dystrophic cardiomyopathy remain unclear. Therefore, we investigated the relationship between UA and cardiomyopathy in dystrophinopathy, as its early detection may offer a more straightforward method for monitoring cardiac health.

METHOD: A total of 71 dystrophinopathy patients underwent biochemical, genetic, and echocardiography assessments to correlate UA, gene mutations types, and cardiac parameters.

RESULT: Patients with hyperuricaemia showed larger atria and ventricles, and thicker left ventricular walls compared to those with normal UA levels. This was reflected in increased left ventricular end-diastolic diameter (LVEDD), left ventricular end-systolic diameter (LVESD), left atrial diameter (LAD), right ventricular diameter (RVD), left ventricular posterior wall thickness (LVPWT), and interventricular septal thickness (IVST). Multivariate linear regression analysis revealed an independent positive correlation between UA and these echocardiographic parameters.

CONCLUSION

Elevated serum UA levels were independently associated with cardiac morphological changes, including cardiac dilation and left ventricular remodelling in dystrophinopathy patients. Consequently, UA may be considered as a potential biomarker for cardiomyopathy in dystrophinopathy.