ArticleEuropean heart journal. Case reports2023
Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.
Article in European heart journal. Case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 4 citations in OpenAlex.
- Phenotypic overlap masking MELAS in Turner syndrome: a diagnostic challenge.European heart journal. Case reports · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Pathogenic role of mitochondrial DNA mutations in heart failure: clinical features, mechanisms, and therapeutic prospects.Frontiers in cardiovascular medicine · 2026Review
- Late-onset MELAS syndrome in a 46-year-old man with initial symptom of chest tightness: a case report.European heart journal. Case reports · 2023Article
- Mitochondrial disorders due to m.3243A>G not meeting diagnostic criteria for MELAS require comprehensive work-up.European heart journal. Case reports · 2023Article
- Adult-onset MELAS syndrome in a 51-year-old woman without typical clinical manifestations: a case report.European heart journal. Case reports · 2023Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
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Abstract
Background: Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a multi-organ disorder resulting from mitochondrial DNA (mtDNA) mutations. We report a case of suspected MELAS syndrome that progressed to left ventricular dysfunction 24 years after an initial diagnosis of atrioventricular block (AVB). Case summary: A 51-year-old woman was referred to heart failure clinic because of dyspnoea on exertion and progressive cardiomegaly. She had a dual-chamber pacemaker implanted for 24 years because of a high-degree AVB. She was treated for diabetes mellitus for 23 years and used hearing aids for 12 years because of sensorineural hearing loss. Transthoracic echocardiography revealed reduced left ventricular ejection fraction (26%), with increased thickness and unusual texture of the myocardium. The absence of abnormal findings on serum and urine protein electrophoresis suggested that light-chain amyloidosis was unlikely. In addition, Discussion: The patient had progressed to heart failure with reduced ejection fraction 24 years after the first cardiac manifestation. An identification of the mutation in the
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