A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report
A previously unreported mutation is presented, leading to BTHS. This disease can have severe cardiovascular manifestations, requiring MCS and OHT.
Authors
- Szymon Pawlak (ORCID: https://orcid.org/0000-0001-9347-9839)
- Joanna Śliwka (ORCID: https://orcid.org/0000-0001-7231-0743)
- Dorota Piekutowska‐Abramczuk (ORCID: https://orcid.org/0000-0002-9786-3704)
- Michał Kapałka (ORCID: https://orcid.org/0000-0002-7961-5942)
- Tomasz Hrapkowicz (ORCID: https://orcid.org/0000-0002-8945-7351)
- Michał Krawiec (ORCID: https://orcid.org/0000-0003-0450-6167)
- Paulina Hamerling
- Weronika Grzywacz
- Wiktoria Hawel
- Gabriela Skórska (ORCID: https://orcid.org/0009-0008-2197-3414)
Institutions
- Medical University of Silesia (PL)
- Children's Memorial Health Institute (PL)
- Silesian Center for Heart Disease (PL)
Publication Details
- Journal
- Frontiers in Pediatrics
- Published
- 2025-08-18
- DOI
- https://doi.org/10.3389/fped.2025.1634258
- Primary Topic
- Signaling Pathways in Disease
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Uniwersytet Śląski w Katowicach