Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy

Area of Science:

• Cardiology
• Biochemistry
• Genetics

Background:

• Cardiomyopathy significantly contributes to mortality in dystrophinopathy.
• Current diagnostic methods like echocardiography and cardiac magnetic resonance imaging (CMR) present challenges for pediatric and remote patients.
• The role of uric acid (UA) in dystrophic cardiomyopathy and its correlation with myocardial injury are not well understood.

Purpose of the Study:

• To investigate the relationship between uric acid levels and cardiomyopathy in dystrophinopathy.
• To explore the potential of uric acid as an early detection biomarker for cardiac issues in dystrophinopathy.

Main Methods:

• Biochemical, genetic, and echocardiography assessments were performed on 71 dystrophinopathy patients.
• Correlations between uric acid levels, gene mutation types, and cardiac parameters were analyzed.
• Multivariate linear regression was used to identify independent associations.

Main Results:

• Patients with hyperuricemia exhibited enlarged atria and ventricles, and increased left ventricular wall thickness.
• Significant increases were observed in 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).
• Uric acid showed an independent positive correlation with these echocardiographic parameters.

Conclusions:

• Elevated serum uric acid levels are independently associated with cardiac morphological changes, including dilation and left ventricular remodeling in dystrophinopathy.
• Uric acid may serve as a potential, accessible biomarker for monitoring cardiomyopathy in dystrophinopathy patients.
• Further research could validate UA as a routine screening tool.