ArticlePediatric cardiology
Clinical presentations of mitochondrial cardiomyopathies.
Article in Pediatric cardiology. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 72 citations in OpenAlex.
- Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy.Frontiers in cardiovascular medicine · 2026Article
- Application of left ventricular endomyocardial biopsy in the diagnosis of mitochondrial cardiomyopathy: a case report.BMC cardiovascular disorders · 2023Article
- Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.American journal of medical genetics. Part A · 2021Article
- Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes.International journal of molecular sciences · 2021Review
- Impact of cardiovascular involvement on the clinical course of paediatric mitochondrial disorders.Orphanet journal of rare diseases · 2020Article
- The Cardioprotective Mechanism of Phenylaminoethyl Selenides (PAESe) Against Doxorubicin-Induced Cardiotoxicity Involves Frataxin.Frontiers in pharmacology · 2020Article
- Five non-mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes phenotype adult patients with m.3243A>G mutation after kidney transplantation: follow-up and review of the literature.Clinical kidney journal · 2019Article
- Cardiovascular Manifestations of Mitochondrial Disease.Biology · 2019Review
- Intra-patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation.Molecular genetics & genomic medicine · 2019Article
- Chronic maternal hypercortisolemia in late gestation alters fetal cardiac function at birth.American journal of physiology. Regulatory, integrative and comparative physiology · 2018Article
- Myocardial Layer-Specific Strain Analysis in Children with Mitochondrial Disease.Yonsei medical journal · 2018Article
- Arrhythmia as a cardiac manifestation in MELAS syndrome.Molecular genetics and metabolism reports · 2015Article
- Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.Mitochondrion · 2014Article
- Inheritance of the m.3243A>G mutation.JIMD reports · 2013Article
- Hypertrophic Cardiomyopathy due to Mitochondrial Disease: Prenatal Diagnosis, Management, and Outcome.Case reports in obstetrics and gynecology · 2013Article
- Cardiomyocyte specific deletion of Crif1 causes mitochondrial cardiomyopathy in mice.PloS one · 2013Article
- Clinical features and heteroplasmy in blood, urine and saliva in 34 Dutch families carrying the m.3243A > G mutation.Journal of inherited metabolic disease · 2012Article
- Cardiovascular magnetic resonance imaging (CMR) reveals characteristic pattern of myocardial damage in patients with mitochondrial myopathy.Clinical research in cardiology : official journal of the German Cardiac Society · 2012Article
- 99 mTc-MIBI washout as a complementary factor in the evaluation of idiopathic dilated cardiomyopathy (IDCM) using myocardial perfusion imaging.The international journal of cardiovascular imaging · 2012Article
- Electrocardiography as an early cardiac screening test in children with mitochondrial disease.Korean journal of pediatrics · 2010Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledTo determine the clinical manifestations and interfamilial variability of patients diagnosed with a mitochondrial cardiomyopathy, we reviewed the charts of 14 patients with cardiomyopathy out of 59 patients with mitochondrial disorders who attended the mitochondrial disease clinic at Wolfson Medical Center from 1996 to 2001. All patients underwent a metabolic evaluation including blood lactate, pyruvate, carnitine, and amino acids and urine organic acids. Respiratory chain enzymes were assessed in 10 patients. The mitochondrial DNA (mtDNA) was assessed for mutations. The age at presentation ranged between 6 months and 24 years. Six of the patients died, 5 from heart failure. The cardiomyopathy was hypertrophic in 10 and dilated in 4. Conduction and rhythm abnormalities were present in 6. Eleven patients had family members with mitochondrial disorders. All the patients had additional involvement of one or more systems. Seven patients exhibited a deficiency of a respiratory chain enzyme in the muscle. The MELAS mtDNA point mutation (3243) was found in one patient. Blood lactic acid levels were increased in 5. Brain MRI abnormalities were observed in 4.
conclusionsMitochondrial dysfunction frequently affects the heart and may cause both hypertrophic and dilated cardiomyopathy. The cardiomyopathy is usually a part of a multisystem involvement and may rarely be isolated. The course may be stable for many years, but rapid deterioration may occur. Understanding the biochemical and genetic features of these diseases will enable us to comprehend the clinical heterogeneity of these disorders.
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