SynthesisHerz2020
The heart in m.3243A>G carriers.
Synthesis in Herz, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
17 citing papers in PubMed, 22 citations in OpenAlex.
- Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.Frontiers in cardiovascular medicine · 2026Article
- Letter to the Editor From Finsterer "Diverse Phenotypes of Mitochondrial Disease With Varying Levels of Heteroplasmy".JCEM case reports · 2025Article
- Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction.Molecular genetics and metabolism · 2025Article
- 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
- Diabetes Associated With Maternally Inherited Diabetes and Deafness (MIDD): From Pathogenic Variant to Phenotype.Diabetes · 2025Review
- Diagnosing Kearns-Sayre syndrome requires documentation of the underlying genetic defect.The Pan African medical journal · 2025Article
- The Mitochondrial m.3243A>G Mutation on the Dish, Lessons from In Vitro Models.International journal of molecular sciences · 2023Review
- Gene mutations in comorbidity of epilepsy and arrhythmia.Journal of neurology · 2023Review
- Bilateral deafness, diabetes, and different types of cardiomyopathy in family members with m.3243A > g mutation: a case report.European heart journal. Case reports · 2023Article
- Commentary: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with anFrontiers in neuroscience · 2023Article
- Review
- Article
- Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype.Frontiers in genetics · 2022Review
- Stroke-Like Lesion in an m.3243A>G Carrier Presenting as Hyperperfusion and Hypometabolism.Cureus · 2021Article
- Lifestyle Changes Normalize Serum Lactate Levels in an m.3243A>G Carrier.The American journal of case reports · 2021Article
- Phenotypic Heterogeneity in 5 Family Members with the Mitochondrial Variant m.3243A>G.The American journal of case reports · 2020Article
- Stroke-like Episodes in m.3243A≥G Carriers Need to Be Monitored by MRI Starting with the Onset of Clinical Manifestations.AJNR. American journal of neuroradiology · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesLittle is known about cardiac involvement in m.3243A>G variant carriers. Thus, this study aimed to assess type and frequency of cardiac disease in symptomatic and asymptomatic m.3243A>G carriers.
methodsSystematic literature review.
resultsThe m.3243A>G variant may manifest phenotypically as mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), maternally inherited diabetes and deafness (MIDD), myoclonic epilepsy with ragged red fiber (MERRF), Leigh syndrome, or MELAS/KSS (Kearns-Sayre syndrome) overlap. Only few systematic studies which prospectively investigated m.3243A>G carriers for cardiac involvement were found. Cardiac abnormalities reported in m.3243A>G carriers include myocardial abnormalities, arrhythmias, or conduction defects. Myocardial abnormalities include myocardial thickening, hypertrophic cardiomyopathy, dilated cardiomyopathy, noncompaction, myocardial fibrosis, systolic dysfunction, heart failure, or arterial hypertension. Arrhythmias reported in m.3243A>G carriers include paroxysmal supraventricular or ventricular arrhythmias, including sinus tachycardia, atrial fibrillation and nonsustained ventricular tachycardia, and sudden cardiac death. Conduction defects in this group of patients include Wolff-Parkinson-White syndrome and left/right bundle branch block. Asymptomatic m.3243A>G carriers usually do not develop clinical or subclinical cardiac disease.
conclusionsCardiac involvement in m.3243A>G carriers has been only rarely systematically studied, which is perhaps why the incidence of cardiac diseases in MELAS is lower than would be expected. Myocardial abnormalities are much more frequent than arrhythmias or conduction defects. All symptomatic and asymptomatic m.3243A>G carriers should be systematically investigated for cardiac disease.
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What OpenQuestion holds
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.