1p36 Deletion Syndrome and Left Ventricular Non-compaction Cardiomyopathy-Two Cases Report.
1p36 deletion syndrome
LVNC
cardiomyopathy
case report
non-compaction
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
14
01
2021
accepted:
26
04
2021
entrez:
24
6
2021
pubmed:
25
6
2021
medline:
25
6
2021
Statut:
epublish
Résumé
1p36 deletion is the most common terminal deletion syndrome in humans. Herein, we report two cases, a 5-month-old female and a 14.5-year-old female, both with 1p36 deletion and left ventricular non-compaction cardiomyopathy. They presented with severely depressed left ventricle function and underwent heart transplantation with excellent outcomes. Given the incidence of heart defects and cardiomyopathy in 1p36 deletion syndrome, it should be recommended that children with this genetic condition have screening for cardiac disease. These cases add to the current literature by demonstrating the potential therapeutic options for non-compaction in 1p36 deletion syndrome and showed the favorable outcomes.
Identifiants
pubmed: 34164357
doi: 10.3389/fped.2021.653633
pmc: PMC8215124
doi:
Types de publication
Case Reports
Langues
eng
Pagination
653633Informations de copyright
Copyright © 2021 Jang, Taber, Bateman, Steiner, Ameduri and Griselli.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Clin Genet. 2003 Oct;64(4):310-6
pubmed: 12974736
Heart. 2013 Oct;99(20):1535-42
pubmed: 23503402
Eur J Med Genet. 2007 May-Jun;50(3):233-6
pubmed: 17337261
Curr Opin Pediatr. 2007 Dec;19(6):619-27
pubmed: 18025927
Pediatrics. 2008 Feb;121(2):404-10
pubmed: 18245432
J Card Fail. 2015 Nov;21(11):877-84
pubmed: 26164213
Am J Med Genet A. 2014 Oct;164A(10):2496-503
pubmed: 25044719
Am J Med Genet C Semin Med Genet. 2007 Nov 15;145C(4):346-56
pubmed: 17918734