ArticleNeurology. Genetics2019
Systematic review and meta-analysis of cardiac involvement in mitochondrial myopathy.
Article in Neurology. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Quantitative assessment of efficacy and evaluation of feasibility of exercise training protocols in adult and pediatric primary mitochondrial disease.BMC medicine · 2026Pooled it
- Mitochondrial DNA depletion syndrome 12B: role of photon-counting computed tomography in detection of cardiac involvement-a case report.European heart journal. Case reports · 2026Article
- Cardiac magnetic resonance findings in mitochondrial disease: a guide for clinicians.European heart journal. Imaging methods and practice · 2025Review
- Cardiac manifestations in adult MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes syndrome)- a cross-sectional study.Orphanet journal of rare diseases · 2025Article
- Article
- Red Flags in Primary Mitochondrial Diseases: What Should We Recognize?International journal of molecular sciences · 2023Review
- A mitochondrial cytopathy presenting with persistent troponin elevation: case report.European heart journal. Case reports · 2023Article
- Advances in Neurological Diseases and Stroke.Journal of cardiovascular development and disease · 2023Article
- Cardiac Involvement in Mitochondrial Disorders.Current heart failure reports · 2023Review
- Stroke-like Episodes in Inherited Neurometabolic Disorders.Metabolites · 2022Review
- Review
- Low Prevalence of Cardiomyopathy in Patients with Mitochondrial Disease and Neurological Manifestations.Journal of cardiovascular development and disease · 2022Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Selective symmetrical necrotizing encephalopathy secondary to primary mitochondrial disorder in a cat.Journal of veterinary internal medicine · 2021Article
- Prevalence of heart disease in patients with mitochondrial abnormalities on skeletal muscle biopsy.Annals of clinical and translational neurology · 2021Article
- Review
- Mitochondrial Syndromes Revisited.Journal of clinical medicine · 2021Review
- Novel myocardial markers GADD45G and NDUFS5 identified by RNA-sequencing predicts left ventricular reverse remodeling in advanced non-ischemic heart failure: a retrospective cohort study.BMC cardiovascular disorders · 2020Article
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveOur goal was to perform a systematic review of the literature to demonstrate the prevalence of cardiac abnormalities identified using cardiac investigations in patients with mitochondrial myopathy (MM).
methodsThis systematic review surveys the available evidence for cardiac investigations in MM from a total of 21 studies including 825 participants. Data were stratified by genetic mutation and clinical syndrome.
resultsWe identified echocardiogram and ECG as the principal screening modalities that identify cardiac structural (29%) and conduction abnormalities (39%) in various MM syndromes. ECG abnormalities were more prevalent in patients with m.3243A>G mutations than other gene defects, and patients with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) had a higher prevalence of ECG abnormalities than patients with other clinical syndromes. Echocardiogram abnormalities were significantly more prevalent in patients with m.3243A>G or m.8344A>G mutations compared with other genetic mutations. Similarly, MELAS and MERRF had a higher prevalence compared with other syndromes. We observed a descriptive finding of an increased prevalence of ECG abnormalities in pediatric patients compared with adults.
conclusionsThis analysis supports the presence of a more severe cardiac phenotype in MELAS and myoclonic epilepsy with ragged red fibres syndromes and with their commonly associated genetic mutations (m.3243A>G and m.8344A>G). This provides the first evidence basis on which to provide more intensive cardiac screening for patients with certain clinical syndromes and genetic mutations. However, the data are based on a small number of studies. We recommend further studies of natural history, therapeutic response, pediatric participants, and cardiac MRI as areas for future investigation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.