{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:05:31Z","timestamp":1756339531044,"version":"3.44.0"},"reference-count":25,"publisher":"BMJ","issue":"11","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,10,16]]},"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:p>Barth syndrome (BTHS) is one of the rare X linked recessive diseases that appear in infancy with a triad of myocardial and skeletal muscle diseases, neutropenia and growth retardation. The pathogenic variant of <jats:italic>TAFAZZIN<\/jats:italic> gene leads to BTHS, which encodes the TAFAZZIN protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodelling and functional maturation. We present a case of a neonate presenting with early-onset cardiomyopathy, neutropenia and failure to thrive with no family history of cardiac diseases. Echocardiography suggested a dilated left ventricle with non-compaction and a low ejection fraction. The baby was managed with diuretics and decongestive measures. Clinical exome sequencing detected a hemizygous novel splice site variant c.541+2 T&gt;C in <jats:italic>TAFAZZIN<\/jats:italic>, confirming the diagnosis of BTHS.<\/jats:p>","DOI":"10.1136\/bcr-2024-260799","type":"journal-article","created":{"date-parts":[[2024,11,11]],"date-time":"2024-11-11T23:40:35Z","timestamp":1731368435000},"page":"e260799","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":1,"title":["Barth syndrome: a rare cause of cardiomyopathy in neonates"],"prefix":"10.1136","volume":"17","author":[{"given":"Neha","family":"Dalal","sequence":"first","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8659-7658","authenticated-orcid":false,"given":"Kirti","family":"Naranje","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amita","family":"Moriangthem","sequence":"additional","affiliation":[{"name":"Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3427-7441","authenticated-orcid":false,"given":"Anita","family":"Singh","sequence":"additional","affiliation":[{"name":"Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,11,11]]},"reference":[{"key":"2025082708563343000_17.11.e260799.1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-8"},{"key":"2025082708563343000_17.11.e260799.2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"2025082708563343000_17.11.e260799.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31372"},{"key":"2025082708563343000_17.11.e260799.4","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbalip.2012.11.007"},{"key":"2025082708563343000_17.11.e260799.5","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-8-70","article-title":"Natural history of Barth syndrome: a national cohort study of 22 patients","volume":"8","author":"Rigaud","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2025082708563343000_17.11.e260799.6","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/j.jpeds.2019.09.074","article-title":"A Bayesian Analysis to Determine the Prevalence of Barth Syndrome in the Pediatric Population","volume":"217","author":"Miller","year":"2020","journal-title":"J Pediatr"},{"key":"2025082708563343000_17.11.e260799.7","doi-asserted-by":"crossref","DOI":"10.3390\/genes13040656","article-title":"Barth Syndrome Cardiomyopathy: An Update","volume":"13","author":"Pang","year":"2022","journal-title":"Genes (Basel)"},{"key":"2025082708563343000_17.11.e260799.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-008-8030-5"},{"key":"2025082708563343000_17.11.e260799.9","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80289-6"},{"key":"2025082708563343000_17.11.e260799.10","doi-asserted-by":"publisher","DOI":"10.1080\/08035250410022837"},{"key":"2025082708563343000_17.11.e260799.11","doi-asserted-by":"publisher","DOI":"10.1086\/514879"},{"key":"2025082708563343000_17.11.e260799.12","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971031)72:3<257::AID-AJMG2>3.0.CO;2-O"},{"key":"2025082708563343000_17.11.e260799.13","doi-asserted-by":"crossref","unstructured":"Garlid AO , Schaffer CT , Kim J , et al . TAZ encodes tafazzin, a transacylase essential for cardiolipin formation and central to the etiology of Barth syndrome. Gene 2020;726. doi:10.1016\/j.gene.2019.144148","DOI":"10.1016\/j.gene.2019.144148"},{"key":"2025082708563343000_17.11.e260799.14","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1002\/jimd.12422","article-title":"Clinical presentation and natural history of Barth Syndrome: An overview","volume":"45","author":"Taylor","year":"2022","journal-title":"J Inherit Metab Dis"},{"key":"2025082708563343000_17.11.e260799.15","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.1004485","article-title":"Prenatal case report of Barth syndrome caused by novel TAFAZZIN mutation: Clinical characteristics of fetal dilated cardiomyopathy with ascites","volume":"10","author":"Zhao","year":"2022","journal-title":"Front Pediatr"},{"key":"2025082708563343000_17.11.e260799.16","doi-asserted-by":"crossref","first-page":"95","DOI":"10.1515\/bjmg-2016-0043","article-title":"A novel intronic splice site tafazzin gene mutation detected prenatally in a family with Barth syndrome","volume":"19","author":"Bak\u0161ien\u0117","year":"2016","journal-title":"Balkan J Med Genet"},{"key":"2025082708563343000_17.11.e260799.17","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2023.1250772","article-title":"Case report: Variability in clinical features as a potential pitfall for the diagnosis of Barth syndrome","volume":"11","author":"Tovaglieri","year":"2023","journal-title":"Front Pediatr"},{"key":"2025082708563343000_17.11.e260799.18","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1016\/j.jpeds.2017.09.075","article-title":"Barth Syndrome: different Approaches to Diagnosis","volume":"193","author":"Imai-Okazaki","year":"2018","journal-title":"J Pediatr"},{"key":"2025082708563343000_17.11.e260799.19","first-page":"2","article-title":"BARTH SYNDROME: a rare infantile cardiomyopathy","volume":"55","author":"Erol","year":"2015","journal-title":"Hayd Num Med J"},{"key":"2025082708563343000_17.11.e260799.20","doi-asserted-by":"crossref","DOI":"10.1002\/mgg3.2190","article-title":"A case of infantile Barth syndrome with severe heart failure: importance of splicing variants in the TAZ gene","volume":"11","author":"Takeda","year":"2023","journal-title":"Mol Genet Genomic Med"},{"key":"2025082708563343000_17.11.e260799.21","doi-asserted-by":"crossref","first-page":"1430","DOI":"10.1007\/s00246-012-0258-z","article-title":"Left ventricular noncompaction cardiomyopathy in Barth syndrome: an example of an undulating cardiac phenotype necessitating mechanical circulatory support as a bridge to transplantation","volume":"33","author":"Hanke","year":"2012","journal-title":"Pediatr Cardiol"},{"key":"2025082708563343000_17.11.e260799.22","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1111\/j.1399-3046.2006.00629.x","article-title":"Successful cardiac transplantation in Barth syndrome--single-centre experience of four patients","volume":"11","author":"Mangat","year":"2007","journal-title":"Pediatr Transplant"},{"key":"2025082708563343000_17.11.e260799.23","doi-asserted-by":"crossref","first-page":"1879","DOI":"10.1161\/CIRCULATIONAHA.118.035455","article-title":"Modernized Classification of Cardiac Antiarrhythmic Drugs","volume":"138","author":"Lei","year":"2018","journal-title":"Circulation"},{"key":"2025082708563343000_17.11.e260799.24","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1089\/hum.2018.020","article-title":"AAV-Mediated TAZ Gene Replacement Restores Mitochondrial and Cardioskeletal Function in Barth Syndrome","volume":"30","author":"Suzuki-Hatano","year":"2019","journal-title":"Hum Gene Ther"},{"key":"2025082708563343000_17.11.e260799.25","doi-asserted-by":"crossref","DOI":"10.1186\/s13023-022-02469-5","article-title":"Natural history comparison study to assess the efficacy of elamipretide in patients with Barth syndrome","volume":"17","author":"Hornby","year":"2022","journal-title":"Orphanet J Rare Dis"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2024-260799","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T15:56:38Z","timestamp":1756310198000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2024-260799"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,11]]},"references-count":25,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2024,11,11]]},"published-print":{"date-parts":[[2024,11]]}},"alternative-id":["10.1136\/bcr-2024-260799"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2024-260799","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,11]]}}}