ArticleFrontiers in cardiovascular medicine2026
Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.
Article in Frontiers in cardiovascular medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Mitochondrial diseases are rare multisystem disorders caused by pathogenic variants in mitochondrial or nuclear DNA. 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. Laboratory tests demonstrated elevated serum lactate, HbA1c, and high-sensitivity cardiac troponin T. Targeted sequencing identified a pathogenic m.3243A > G variant in the MT-TL1 gene with 55.6% heteroplasmy, confirming mitochondrial encephalomyopathy with cardiac involvement. This case highlights the phenotypic heterogeneity and diagnostic challenges of m.3243A > G-related disorders.
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