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Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for maternally-inherited cardiomyopathy and hearing loss.
3 publications have been identified in PubMed for maternally-inherited cardiomyopathy and hearing loss. Research spans Case Report / Case Series (67%) and Review / Meta-Analysis (33%).
Lopriore P (2025). [PMID: 40164291](https://pubmed.ncbi.nlm.nih.gov/40164291/). *Mitochondrion*. [Case Report / Case Series]
Ali L (2025). [PMID: 40787643](https://pubmed.ncbi.nlm.nih.gov/40787643/). *J Biol Methods*. [Review / Meta-Analysis]
Makgopa H (2024). [PMID: 38840956](https://pubmed.ncbi.nlm.nih.gov/38840956/). *Afr J Lab Med*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 5:12 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center