Coexistence of Andersen-Tawil Syndrome with Polymorphisms in hERG1 Gene (K897T) and SCN5A Gene (H558R) in One Family.
Ann Noninvasive Electrocardiol
; 21(2): 189-95, 2016 Mar.
Article
en En
| MEDLINE
| ID: mdl-26109178
ABSTRACT
BACKGROUND:
Andersen-Tawil Syndrome (ATS) is a channelopathy caused by mutations in KCNJ2 gene. It is characterized by symptoms of ventricular arrhythmias, periodic paralysis or muscle weakness, and dysmorphic features. ATS can present with the triad of symptoms, any combination or none of them. Risk factors for dangerous arrhythmias are unknown. The study assessed the impact of K897T polymorphism in hERG1 gene and H558R polymorphism in SCN5A gene coexisting with R218Q mutation in KCNJ2 in one family on clinical manifestation.METHODS:
Family members underwent clinical assessment, ECG and genotyping. Holter monitoring was performed in mutation carriers and additionally in one family member with no mutation, but with K897T polymorphism.RESULTS:
Proband with ATS mutation, K897T and H558R polymorphisms and proband's sister with ATS mutation and K897T polymorphism presented following symptoms loss of consciousness, bidirectional and polymorphic ventricular tachycardia and about 5000 ventricular extrasystoles. Symptoms presented by the member with only the ATS mutation and by member with ATS mutation and H558R polymorphism were not as severe. U wave appeared in all examined family members regardless of the mutation presence. Studied individuals with ATS mutation had the T-peak-U-peak interval longer than 200 ms. In all ATS mutation carriers it was longer than in family members with no mutation. T-peak-T-end interval was the longest (>120 ms) in members with coexisting mutation and K897T polymorphism.CONCLUSION:
ATS severity possibly depends on other genes' polymorphisms. In the presented family, it could depend on the presence of K897T polymorphism in hERG1.Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Polimorfismo Genético
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Síndrome de Andersen
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Canales de Potasio Éter-A-Go-Go
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Canal de Sodio Activado por Voltaje NAV1.5
Tipo de estudio:
Risk_factors_studies
Límite:
Female
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Humans
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Middle aged
Idioma:
En
Revista:
Ann Noninvasive Electrocardiol
Asunto de la revista:
CARDIOLOGIA
Año:
2016
Tipo del documento:
Article
País de afiliación:
Polonia