Long-term follow-up of a patient with type 2 Timothy syndrome and the partial efficacy of mexiletine.
Gene
; 777: 145465, 2021 Apr 20.
Article
en En
| MEDLINE
| ID: mdl-33524520
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Trastorno Autístico
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Síndrome de QT Prolongado
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Sindactilia
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Mexiletine
Tipo de estudio:
Observational_studies
/
Prognostic_studies
Límite:
Child
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Humans
/
Male
Idioma:
En
Revista:
Gene
Año:
2021
Tipo del documento:
Article