New Family With Catecholaminergic Polymorphic Ventricular Tachycardia Linked to the Triadin Gene.
J Cardiovasc Electrophysiol
; 26(10): 1146-50, 2015 Oct.
Article
em En
| MEDLINE
| ID: mdl-26200674
ABSTRACT
We describe a new family with cathecholaminergic polymorphic ventricular tachycardia (CPVT) linked to the Triadin gene. This is the second report of such a CPVT of autosomal recessive inheritance. Using an NGS panel including 42 genes involved in cardiac sudden death, 2 heterozygous pathogenic mutations (c.613C> T/p.Gln205* and c.22 + 29 A>G) were identified in the Triadin gene in 2 sibs who experienced early severe arrhythmias without evidence of CPVT diagnosis at first cardiac evaluation. However, significant arrhythmias occurred after catecholaminergic stimulation. Each of the TRDN mutations was inherited from a healthy parent. In this family, genetic studies permit confirmation of the CPVT diagnosis in the 2 affected sibs and permit the early diagnosis of the third asymptomatic child. It also helped guide the therapeutic strategy in this family.
Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas de Transporte
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Taquicardia Ventricular
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Predisposição Genética para Doença
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Proteínas Musculares
Tipo de estudo:
Prognostic_studies
/
Screening_studies
Limite:
Child
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Child, preschool
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Humans
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article