Comparison of plasma metabolic profiling between children with hypertrophic obstructive cardiomyopathy and healthy controls.

BACKGROUND

The diagnostic value of serum metabolomics in congenital heart disease has been proven. The difference of serum metabolomics between children with hypertrophic obstructive cardiomyopathy (HOCM) and normal children is unknown.

METHODS

Fasting blood samples of 24 symptomatic children with HOCM, 11 children with left ventricular outflow tract obstruction because of other cardiac anomalies (non-HOCM group) and 41 normal controls were obtained. The targeted metabolomic approach was performed using a Vanquish ultra-performance liquid chromatography system coupled to a Q-Exactive HF mass spectrometer.

RESULTS

The plasma level of 79 out of 224 metabolites were significantly changed (|log2FC| > 1 and P adj. < 0.05) between the HOCM and the normal group. There was no significant difference between the HOCM and non-HOCM groups. A total of 79 significantly changed metabolites between the HOCM and the normal group were significantly enriched in two pathways, including purine metabolism (P < 0.001) and thiamine metabolism (P = 0.034).

CONCLUSION

Our results identified the significant changes of plasma metabolite between children with HOCM and healthy children, which is helpful for understanding the pathogenesis of HOCM and early diagnosis.