{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T20:06:33Z","timestamp":1790798793647,"version":"4.1.0"},"reference-count":52,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T00:00:00Z","timestamp":1373414400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/3.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt C"],"published-print":{"date-parts":[[2013,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Barth syndrome (BTHS) is an X\u2010linked recessive disorder that is typically characterized by cardiomyopathy (CMP), skeletal myopathy, growth retardation, neutropenia, and increased urinary levels of 3\u2010methylglutaconic acid (3\u2010MGCA). There may be a wide variability of phenotypes amongst BTHS patients with some exhibiting some or all of these findings. BTHS was first described as a disease of the mitochondria resulting in neutropenia as well as skeletal and cardiac myopathies. Over the past few years, a greater understanding of BTHS has developed related to the underlying genetic mechanisms responsible for the disease. Mutations in the <jats:italic>TAZ<\/jats:italic> gene on chromosome Xq28, also known as G4.5, are responsible for the BTHS phenotype resulting in a loss\u2010of\u2010function in the protein product tafazzin. Clinical management of BTHS has also seen improvement. Patients with neutropenia are susceptible to life\u2010threatening bacterial infections with sepsis being a significant concern for possible morbidity and mortality. Increasingly, BTHS patients are suffering from heart failure secondary to their CMP. Left ventricular noncompaction (LVNC) and dilated CMP are the most common cardiac phenotypes reported and can lead to symptoms of heart failure as well as ventricular arrhythmias. Expanded treatment options for end\u2010stage myocardial dysfunction now offer an opportunity to change the natural history for these patients. Herein, we will provide a current review of the genetic and molecular basis of BTHS, the clinical features and management of BTHS, and potential future directions for therapeutic strategies. \u00a9 2013 The Authors. <jats:italic>American Journal of Medical Genetics Part C: Seminars in Medical Genetics<\/jats:italic> published by Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.c.31372","type":"journal-article","created":{"date-parts":[[2013,7,10]],"date-time":"2013-07-10T16:25:22Z","timestamp":1373473522000},"page":"198-205","source":"Crossref","is-referenced-by-count":128,"title":["Barth syndrome"],"prefix":"10.1002","volume":"163","author":[{"given":"John 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