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February 25, 2026Journal of Pediatric Endocrinology and Metabolism0 citations

Hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3 -related mitochondrial disease: a case report with review of the literature

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AEAyşe Şenol ErsakTÇTuğçe ÇağıranAKAyşen Koçyiğit

Key Result

Hypertrophic cardiomyopathy is identified as a novel phenotypic feature in NSUN3-related mitochondrial disease based on the first reported case.

Key Points

  • This research aims to identify hypertrophic cardiomyopathy (HCM) as a novel feature of NSUN3-related mitochondrial disease.
  • Case report analysis of an individual with NSUN3-related mitochondrial disease and hypertrophic cardiomyopathy.
  • Review of existing literature on NSUN3 and related phenotypes.
  • The case presented is the first known instance of HCM in a patient with NSUN3-related mitochondrial disease.
  • Literature review indicates a potential connection between NSUN3 mutations and phenotypic variability.

Structured PICO

P
Population
1 case of NSUN3-related mitochondrial disease with hypertrophic cardiomyopathy (HCM)

Identifies hypertrophic cardiomyopathy as a novel phenotypic feature of NSUN3-related mitochondrial disease.

Abstract

To our knowledge, this is the first reported case of NSUN3-related mitochondrial disease with HCM. An increasing number of reported cases will likely contribute to a more comprehensive understanding of the clinical phenotype and genotype-phenotype correlations.

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Cite This Study

Ersak et al. (2026) studied this question. Hypertrophic cardiomyopathy is identified as a novel phenotypic feature in NSUN3-related mitochondrial disease based on the first reported case.

synapsesocial.com/papers/699e90eff5123be5ed04e339https://doi.org/10.1515/jpem-2025-0578
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