Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy

Q: What are the key findings of this study?

Elevated serum uric acid (>323 μmol/L) was independently associated with larger left ventricular end-diastolic diameter (41.33 vs 37.62 mm, p<0.01) and ventricular wall thickness in dystrophinopathy.

Q: What is the clinical evidence from this study?

Study design: Cross-Sectional. Population: Dystrophinopathy (n=71). Intervention: Hyperuricaemia (serum uric acid > 323 μmol/L or 5.5 mg/dL) vs. Normouricaemia (serum uric acid ≤ 323 μmol/L). Primary outcome: Left ventricular end-diastolic diameter (LVEDD, mm) on transthoracic echocardiography (β = 0.01, p=<0.01).

Q: What does this research mean for the field?

Elevated serum uric acid levels are independently associated with cardiac dilation and left ventricular wall thickening in patients with dystrophinopathy. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Q: What question did this study set out to answer?

To investigate the association between serum uric acid levels and echocardiographic parameters of cardiac structure and function in patients with dystrophinopathy.

Zhe‐Qi Li; Zhiwei Yang; Yongning Ou; Yi Wen; Cheng Zhang; Yu Peng; Mingjun Lai

doi:10.1080/07853890.2025.2568722

October 6, 2025Annals of MedicineOpen Access

Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy

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Key result

Elevated uric acid is linked to ~4 mm larger LVEDD in dystrophinopathy.

β = 0.01
P<0.01
n=71

Figures

Why the study?

Cardiomyopathy is a major cause of mortality in dystrophinopathy, but imaging is often inconvenient and the role of uric acid as a biomarker of myocardial injury remains unclear.

Is elevated serum uric acid associated with echocardiographic cardiac dilation and ventricular remodelling in pediatric patients with dystrophinopathy?

Key Points

To investigate the association between serum uric acid levels and echocardiographic parameters of cardiac structure and function in patients with dystrophinopathy.
Enrolled 71 dystrophinopathy patients (median age 8 years) who underwent biochemical testing, DMD gene mutation profiling, and transthoracic echocardiography.
Categorized patients by serum uric acid level into hyperuricaemia (>323 μmol/L, n=21) and normouricemia (n=50) groups, as well as by DMD mutation type (deletions in exons 45–55 vs other mutations).
Evaluated relationships using simple correlation and multivariate linear regression analyses adjusting for potential clinical confounders.
Patients with hyperuricaemia had significantly higher LVEDD (41.33 ± 5.49 vs 37.62 ± 4.83 mm, p < 0.01), LVESD (26.96 ± 4.14 vs 24.31 ± 4.13 mm, p = 0.02), LAD (25.81 ± 4.78 vs 22.85 ± 4.68 mm, p = 0.02), LVPWT (6.81 ± 1.94 vs 5.47 ± 1.24 mm, p < 0.01), and IVST (7.14 ± 2.08 vs 5.93 ± 1.14 mm, p = 0.02), with no significant difference in LVEF (65.48 ± 5.288 vs 66.48 ± 5.86%, p = 0.48) or LVFS (35.64 ± 3.65 vs 36.52 ± 4.73%, p = 0.49).
Multivariate linear regression confirmed independent positive correlations between uric acid and LVEDD (β = 0.01, p < 0.01), LAD (β = 0.26, p = 0.02), RVD (β = 0.30, p = 0.03), LVPWT (β = 0.34, p < 0.01), and IVST (β = 0.22, p = 0.02).
Patients with deletions in exons 45–55 had reduced LVPWT compared to other mutation types (5.68 ± 1.51 vs 6.91 ± 1.70 mm, p = 0.02), but genetic mutation types showed no independent correlation with echocardiographic parameters in multivariate models.

Study Design

Type

Cross-Sectional (n=71)

Blinding

Blinded echocardiographers

Multicenter

Yes

Structured PICO

Is elevated serum uric acid associated with echocardiographic cardiac dilation and ventricular remodelling in pediatric patients with dystrophinopathy?

P

Population

71 pediatric patients (median age 8 years, IQR 6-9) with confirmed dystrophinopathy and preserved systolic function (LVEF >50%) not on uric acid-lowering or cardiac medications across two centers in China.

E

Exposure

Elevated serum uric acid / hyperuricaemia (defined as fasting venous serum uric acid > 323 μmol/L [5.5 mg/dL], mean 407.71 ± 69.40 μmol/L, n=21) and DMD gene exon 45-55 deletions (n=22)

C

Comparator

Normal serum uric acid / normouricaemia (fasting serum uric acid ≤ 323 μmol/L, mean 227.56 ± 58.71 μmol/L, n=50) and other DMD gene mutation types (n=49)

O

Outcome

Echocardiographic cardiac morphology and remodelling parameters including 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), assessed by two blinded echocardiographers.surrogate

Main Result

Effect estimate: β = 0.01

Absolute Event Rate: 41.33% vs 37.62%

p-value: p=<0.01

Serum uric acid is independently associated with early echocardiographic chamber dilation and left ventricular wall thickening in pediatric dystrophinopathy patients, offering a simple potential blood biomarker for early cardiomyopathy screening where imaging is difficult.

Limitations

Relatively small sample size (n=71) with patients exhibiting milder disease conditions (LVEF > 50%).
Cross-sectional study design precludes confirming a causal relationship between uric acid and cardiac morphological changes.
Lack of longitudinal follow-up or interventional data to verify whether uric acid varies with disease progression or whether lowering uric acid alleviates heart disease.
Relatively small sample size
Included patients exhibited milder disease conditions (all LVEF > 50%)
Cross-sectional design cannot confirm a causal relationship between uric acid and cardiac morphological changes
Lack of longitudinal or interventional follow-up to assess whether lowering uric acid alleviates progression of heart disease

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Implication

May support uric acid monitoring for early LV changes in pediatric dystrophinopathy; leaves open prognostic validation.

Abstract

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.

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Cite This Study

Li et al. (2025) conducted a cross-sectional in Dystrophinopathy (n=71). Hyperuricaemia (serum uric acid > 323 μmol/L or 5.5 mg/dL) vs. Normouricaemia (serum uric acid ≤ 323 μmol/L) was evaluated on Left ventricular end-diastolic diameter (LVEDD, mm) on transthoracic echocardiography (β = 0.01, p=<0.01). Elevated serum uric acid (>323 μmol/L) was independently associated with larger left ventricular end-diastolic diameter (41.33 vs 37.62 mm, p<0.01) and ventricular wall thickness in dystrophinopathy.

synapsesocial.com/papers/6a9e0ee537bba822732cb15e https://doi.org/10.1080/07853890.2025.2568722

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Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy

Figures

Key Points

Study Design

Structured PICO

Main Result

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Uric acid as a potential biomarker for cardiomyopathy in dystrophinopathy

Figures

Key Points

Study Design

Structured PICO

Main Result

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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