Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.

Case reportFrontiers in cardiovascular medicine· 2026

Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.

Xiao Luo, Ling Li, Gaofeng Su

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Biochemical GeneticsCase reportDiagnosisQ1IF 2.9

Young man's m.3243A>G variant showed 55.6% heteroplasmy on targeted sequencing.

Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.

Xiao Luo … Gaofeng Su

Frontiers in cardiovascular medicine · 2026

Background

Mitochondrial diseases are rare multisystem disorders caused by pathogenic variants in mitochondrial or nuclear DNA.

Results

55.6%

over half the mitochondrial DNA copies carry the mutation

More results

We report a 23-year-old male presenting with exercise intolerance, fatigue, sluggish responsiveness, and a history of ptosis and bilateral hearing loss.

Echocardiography revealed left ventricular hypertrophy, while brain MRI showed cerebellar atrophy and ventricular enlargement.

More results

Laboratory tests demonstrated elevated serum lactate, HbA1c, and high-sensitivity cardiac troponin T.

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Conclusion

This case highlights the phenotypic heterogeneity and diagnostic challenges of m.3243A > G-related disorders.

Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.

Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.

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