Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.
Left cardiac sympathetic denervation
Long QT Syndrome
Mexiletine
Timothy syndrome
Journal
Gene
ISSN: 1879-0038
Titre abrégé: Gene
Pays: Netherlands
ID NLM: 7706761
Informations de publication
Date de publication:
20 Apr 2021
20 Apr 2021
Historique:
received:
14
09
2020
revised:
23
12
2020
accepted:
22
01
2021
pubmed:
2
2
2021
medline:
23
3
2021
entrez:
1
2
2021
Statut:
ppublish
Résumé
We report a detailed case of type 2 TS due to a p.(Gly402Ser) mutation in exon 8 of the CACNA1C gene. The patient shows a marked prolongation of repolarization with a mean QTc of 540 ms. He shows no structural heart disease, syndactyly, or cranio-facial abnormalities. However, he shows developmental delays, without autism, and dental abnormalities. The cardiac phenotype is very severe, with a resuscitated cardiac arrest at 2.5 years of age, followed by 26 appropriate shocks during nine years of follow-up. Adding mexiletine to nadolol resulted in a reduction of the QTc and a slight decrease in the number of appropriate shocks.
Identifiants
pubmed: 33524520
pii: S0378-1119(21)00059-7
doi: 10.1016/j.gene.2021.145465
pii:
doi:
Substances chimiques
CACNA1C protein, human
0
Calcium Channels, L-Type
0
Mexiletine
1U511HHV4Z
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
145465Informations de copyright
Copyright © 2021 Elsevier B.V. All rights reserved.