ReviewEuropean journal of pediatrics2011
Eponym: Barth syndrome.
Review in European journal of pediatrics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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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.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- Barth Syndrome:Genes · 2025Review
- A case of infantile Barth syndrome with severe heart failure: Importance of splicing variants in the TAZ gene.Molecular genetics & genomic medicine · 2023Article
- Cardiomyopathies in Children and Systemic Disorders When Is It Useful to Look beyond the Heart?Journal of cardiovascular development and disease · 2022Review
- Successful management of Barth syndrome: a systematic review highlighting the importance of a flexible and multidisciplinary approach.Journal of multidisciplinary healthcare · 2015Review
- Inborn errors of metabolism underlying primary immunodeficiencies.Journal of clinical immunology · 2014Review
- Natural history of Barth syndrome: a national cohort study of 22 patients.Orphanet journal of rare diseases · 2013Article
- A novel mutation of the TAZ gene in Barth syndrome: acute exacerbation after contrast-dye injection.Journal of Korean medical science · 2013Article
- New clinical and molecular insights on Barth syndrome.Orphanet journal of rare diseases · 2013Article
- Barth syndrome diagnosed in the subclinical stage of heart failure based on the presence of lipid storage myopathy and isolated noncompaction of the ventricular myocardium.European journal of pediatrics · 2011Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
unlabelledBarth syndrome (OMIM #302060) (BTHS) is an X-linked disorder of lipid metabolism characterized by skeletal myopathy, neutropenia, growth delay, and cardiomyopathy. It is caused by mutations in the tafazzin gene (TAZ), which lead to decreased production of an enzyme required to produce cardiolipin, a component of the inner mitochondrial membrane necessary for proper functioning of the electron transport chain. The most common initial presentation of BTHS is significant heart failure due to cardiomyopathy, which is the main cause of death in infancy or childhood. On the other hand, some patients have limited clinical features of BTHS. These patients may be overlooked or misdiagnosed with unclassified congenital myopathy, especially when heart failure is not clinically significant. However, these patients could also develop significant heart failure or life-threatening arrhythmias during or even after childhood. Heart failure in BTHS is often responsive to standard medical therapy, indicating early diagnosis is critical. Diagnostic clues of BTHS in the subclinical stage of heart failure include family histories, findings of lipid storage myopathy in the skeletal muscle biopsy, and elevated plasma brain natriuretic peptide levels. The genetic analysis of TAZ is the only confirmatory method for the diagnosis of BTHS.
conclusionphysicians should be aware of the possibility of this disease and carry out genetic studies when it is considered.
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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.