Clinical Case Report: A Young Man with Mitochondrial Disease and Cardiac Hypertrophy

A single clinical case report details a 23-year-old male with a confirmed pathogenic m.3243A>G variant in the MT-TL1 gene. The report, authored by Xiao Luo and shared under CC-BY-4.0 on figshare in April 2026, includes clinical presentation, imaging, and laboratory findings. It highlights the phenotypic heterogeneity and diagnostic challenges of mitochondrial encephalomyopathy with cardiac involvement.

Use Cases

• Illustrate diagnostic pathways for mitochondrial diseases based on the described clinical and genetic findings.
• Study phenotypic heterogeneity of the m.3243A>G variant based on the detailed symptom profile.
• Analyze correlations between genetic heteroplasmy levels and clinical manifestations based on the reported 55.6% heteroplasmy.
• Review multi-system involvement (neurological, cardiac, metabolic) in a single mitochondrial disease case.

Strengths

• Includes specific genetic variant identification (m.3243A>G) with quantified heteroplasmy level (55.6%).
• Provides a detailed clinical profile with multiple diagnostic results (echocardiography, MRI, lab tests).
• Released under a permissive CC-BY-4.0 license for reuse.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• Description metadata is limited; actual data quality requires manual inspection after download.

Provenance

Source

figshare, author Xiao Luo.

Collection Method

Likely a documented clinical case study.

Time Range

Case report date is unspecified; upload date is 2026.

Freshness

Last updated 2026-04-15 04:22:13; freshness should be verified.

Geography

Geographic origin of the case is unspecified.