{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,21]],"date-time":"2025-08-21T17:11:00Z","timestamp":1755796260060,"version":"3.44.0"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T00:00:00Z","timestamp":1755475200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec><jats:title>Introduction<\/jats:title><jats:p>Barth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the <jats:italic>TAFAZZIN<\/jats:italic> gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid - cardiolipin. Symptoms of this genetic defect include dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth retardation, reduced cholesterol levels, increased serum lactic acid levels, and hypoglycemia in the neonatal period.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case description<\/jats:title><jats:p>A Caucasian boy with DCM and left ventricular non-compaction associated with BTHS, caused by a previously unreported variant in the <jats:italic>TAFAZZIN<\/jats:italic> gene: NM_000116.4:c.525_533del; NP_000107.1:p.(His176_Phe178del) at NC_000023.11:g.154419607_154419615del, in the exon 6. Due to the patient's heart failure, a mechanical circulatory support (MCS) system was required, followed by orthotopic heart transplantation (OHT). Because of the presence of neutropenia, standard immunosuppressive therapy had to be modified in the postoperative period.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A previously unreported mutation is presented, leading to BTHS. This disease can have severe cardiovascular manifestations, requiring MCS and OHT.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fped.2025.1634258","type":"journal-article","created":{"date-parts":[[2025,8,18]],"date-time":"2025-08-18T05:27:21Z","timestamp":1755494841000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report"],"prefix":"10.3389","volume":"13","author":[{"given":"Micha\u0142","family":"Krawiec","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Joanna","family":"\u015aliwka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Szymon","family":"Pawlak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha\u0142","family":"Kapa\u0142ka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulina","family":"Hamerling","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Weronika","family":"Grzywacz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiktoria","family":"Hawel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Sk\u00f3rska","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dorota","family":"Piekutowska-Abramczuk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomasz","family":"Hrapkowicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,8,18]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1002\/jimd.12422","article-title":"Clinical 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