CASE REPORT article
Front. Pediatr.
Sec. Pediatric Cardiology
Volume 13 - 2025 | doi: 10.3389/fped.2025.1634258
A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report
Provisionally accepted
Michał Krawiec1*Szymon Pawlak2Joanna Śliwka2
Michał Kapałka1
Paulina Hamerling1Weronika Grzywacz1Wiktoria Hawel1Gabriela Skórska1Tomasz Hrapkowicz2- 1Student Scientific Association of Adult Cardiac Surgery; Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Medical University of Silesia in Katowice, Zabrze, Poland
- 2Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases, Zabrze, Poland
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Introduction: Barth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the TAFAZZIN 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.Case description: A Caucasian boy with DCM and left ventricular non-compaction associated with BTHS, caused by a previously unreported variant in the TAFAZZIN gene: NM_000116.4:c.525_533del; NP_000107.1:p.(His176_Phe178del) at NC_000023.11:g.153631139_153631147del, 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.A previously unreported mutation is presented, leading to BTHS. This disease can have severe cardiovascular manifestations, requiring MCS and OHT.
Keywords: Barth syndrome 1, TAFAZZIN gene 2, tafazzin 3, cardiolipin 4, cardiomyopathy 5, heart transplant 6
Received: 23 May 2025; Accepted: 14 Jul 2025.
Copyright: © 2025 Krawiec, Pawlak, Śliwka, Kapałka, Hamerling, Grzywacz, Hawel, Skórska and Hrapkowicz. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Michał Krawiec, Student Scientific Association of Adult Cardiac Surgery; Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Medical University of Silesia in Katowice, Zabrze, Poland
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