ArticleOrphanet journal of rare diseases2013
Natural history of Barth syndrome: a national cohort study of 22 patients.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers.
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Who cites it
59 citing papers in PubMed, 126 citations in OpenAlex.
- Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome.Orphanet journal of rare diseases · 2022Trial
- Neutropenia in Barth syndrome: characteristics, risks, and management.Current opinion in hematology · 2019Trial
- Diaphragmatic Mitochondrial Myopathy in a Patient-Derived Mouse Model of Barth Syndrome.Journal of developmental biology · 2026Article
- Elamipretide in pediatric Barth syndrome: from heart failure to school return.Orphanet journal of rare diseases · 2026Article
- Left Ventricular Hypertrabeculation: Historical Evolution, Diagnostic Pitfalls, and a Pragmatic Clinical Approach.Reviews in cardiovascular medicine · 2026Review
- Survival and Clinical Progression in Barth Syndrome: Insights From the Barth Syndrome Foundation's Database of 502 Affected Individuals.Journal of inherited metabolic disease · 2026Article
- Mitochondrial Transplantation as a Therapeutic Strategy for Inherited Mitochondrial Diseases.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Review
- Insights into Neutrophil Dysfunction in Inherited Metabolic Disorders.Journal of innate immunity · 2026Review
- Expanding the phenotypic and genetic landscape of congenital neutropenia through whole-exome and genome sequencing.HemaSphere · 2025Article
- Barth Syndrome:Genes · 2025Review
- Expanded-access use of elamipretide in a newborn with Barth syndrome: a case report.European heart journal. Case reports · 2025Article
- Stem cell models of TAFAZZIN deficiency reveal novel tissue-specific pathologies in Barth syndrome.Human molecular genetics · 2025Article
- Mitochondrial cardiomyopathies: navigating through different clinical and management pictures between adult and paediatric forms.Frontiers in cardiovascular medicine · 2025Review
- Tafazzin deficiency causes substantial remodeling in the lipidome of a mouse model of Barth Syndrome cardiomyopathy.Frontiers in molecular medicine · 2024Article
- Expanded-access use of elamipretide in a critically ill patient with Barth syndrome.Genetics in medicine open · 2024Article
- Phenotypic Characterization of Female Carrier Mice Heterozygous for Tafazzin Deletion.Biology · 2023Article
- Mitochondrial phospholipid metabolism in health and disease.Journal of cell science · 2023Article
- Phenotypic Characterization of MaleBiomedicines · 2023Article
- Longitudinal Observational Study of Cardiac Outcome Risk Factor Prediction in Children, Adolescents, and Adults with Barth Syndrome.Pediatric cardiology · 2022Observational
- Hypogammaglobulinaemia and B cell lymphopaenia in Barth syndrome.BMJ case reports · 2022Article
Corrections and comments
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Authors and funding
20 authors at 14 institutions in 2 countries.
Funding
Abstract
backgroundThis study describes the natural history of Barth syndrome (BTHS).
methodsThe medical records of all patients with BTHS living in France were identified in multiple sources and reviewed.
resultsWe identified 16 BTHS pedigrees that included 22 patients. TAZ mutations were observed in 15 pedigrees. The estimated incidence of BTHS was 1.5 cases per million births (95%CI: 0.2-2.3). The median age at presentation was 3.1 weeks (range, 0-1.4 years), and the median age at last follow-up was 4.75 years (range, 3-15 years). Eleven patients died at a median age of 5.1 months; 9 deaths were related to cardiomyopathy and 2 to sepsis. The 5-year survival rate was 51%, and no deaths were observed in patients ≥3 years. Fourteen patients presented with cardiomyopathy, and cardiomyopathy was documented in 20 during follow-up. Left ventricular systolic function was very poor during the first year of life and tended to normalize over time. Nineteen patients had neutropenia. Metabolic investigations revealed inconstant moderate 3-methylglutaconic aciduria and plasma arginine levels that were reduced or in the low-normal range. Survival correlated with two prognostic factors: severe neutropenia at diagnosis (<0.5 × 109/L) and birth year. Specifically, the survival rate was 70% for patients born after 2000 and 20% for those born before 2000.
conclusionsThis survey found that BTHS outcome was affected by cardiac events and by a risk of infection that was related to neutropenia. Modern management of heart failure and prevention of infection in infancy may improve the survival of patients with BTHS without the need for heart transplantation.
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