Oxidative phosphorylation deficiency type 10 is a rare cause of hypertrophic cardiomyopathy

Introduction. Oxidative phosphorylation deficiency, type 10 is a rare variant of mitochondrial disease characterized by lactate acidosis, damage to the cardiovascular and central nervous systems. Given the variability of phenotype-genotypic correlations, a detailed description of the clinical picture of the disease is important for understanding possible variants of the course of the disease.

Materials and methods. During a molecular genetic study of three hundred fourteen pediatric patients with a guiding diagnosis of hypertrophic cardiomyopathy, one patient with a deficiency of oxidative phosphorylation, type 10, was identified.

Results. The analysis of the nature of the disease course during the period of dynamic follow-up (over 3 years) was carried out.

Conclusion. Deficiency of oxidative phosphorylation, type 10, is a rare cause of the hypertrophic phenotype of cardiomyopathy. Isolated cases of this disease have been described in the literature, which makes the observation significant for a wide range of specialists (pediatricians, neurologists, cardiologists).

Compliance with ethical standards. Voluntary informed consent was obtained from the patient’s legal representative for the publication of material related to the patient in Russian and foreign medical periodicals (dated October 1, 2024).

Contribution:
Shifova N.A. — concept and design of research, collection and processing of material, writing, editing;
Gandaeva L.A. — editing;
Globa O.V. — editing;
Silnova I.V. — editing;
Davydova Yu.I. — editing;
Basargina E.Y. — editing;
Savostyanov K.V. — the concept and design of the study.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Funding. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 18, 2025
Accepted:September 30, 2025
Published: January 31, 2026

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