Academic Journal
A rare genetic variant in PRDM16 is associated with Wolff-Parkinson-White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy.
| Τίτλος: | A rare genetic variant in PRDM16 is associated with Wolff-Parkinson-White syndrome with complex accessory pathway characteristics and left ventricular non-compaction cardiomyopathy. |
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| Συγγραφείς: | Umapathi KK; Division of Pediatric Cardiology, Department of Pediatrics, Charleston Area Medical Center, Charleston, WV, USA., Schmidt SB; Department of Cardiology, Division of Electrophysiology, West Virginia University School of Medicine and Heart and Vascular Institute, Morgantown, WV, USA., Kohli U; Division of Pediatric Cardiology, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children's Heart Center, Morgantown, WV, USA. |
| Πηγή: | Cardiology in the young [Cardiol Young] 2025 Mar; Vol. 35 (3), pp. 620-627. Date of Electronic Publication: 2025 Feb 03. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Cambridge University Press Country of Publication: England NLM ID: 9200019 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1467-1107 (Electronic) Linking ISSN: 10479511 NLM ISO Abbreviation: Cardiol Young Subsets: MEDLINE; PubMed not MEDLINE |
| Imprint Name(s): | Publication: <2005->: Cambridge : Cambridge University Press Original Publication: Chapel Hill, NC : World Publishers, c1991- |
| Περίληψη: | Not only has Wolff-Parkinson-White syndrome been associated with congenital cardiac abnormalities and cardiomyopathies, but familial clustering of Wolff-Parkinson-White syndrome has also been reported. Despite these well-known associations, direct genetic aetiology is rarely implicated in patients with Wolff-Parkinson-White syndrome. We report a 17-year-old girl with Wolff-Parkinson-White syndrome and left ventricular non-compaction cardiomyopathy due to a rare genetic variant in PR-domain containing protein 16. The report is supplemented by a comprehensive review of literature on association between PRDM16, left ventricular non-compaction and Wolff-Parkinson-White syndrome. |
| Contributed Indexing: | Keywords: PRDM16; Wolff–Parkinson–White; left ventricular non-compaction |
| Entry Date(s): | Date Created: 20250203 Date Completed: 20261019 Latest Revision: 20261019 |
| Update Code: | 20261019 |
| DOI: | 10.1017/S1047951124036631 |
| PMID: | 39895316 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1467-1107 |
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| DOI: | 10.1017/S1047951124036631 |