September 1, 2013Annals of Noninvasive ElectrocardiologyOpen Access

Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen‐Tawil Syndrome

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Population

10 mutation carriers from a 5-generation family with a novel KCNJ2 mutation associated with Andersen-Tawil…

Design

Case_series

Authors

EFEva FernlundLinköping University CLCatarina LundinLund University EHEva HertervigLund University

Discussion

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Implication

May prompt family screening for KCNJ2 carriers; leaves open optimal ICD timing in Andersen-Tawil syndrome.

Structured PICO

Population

10 mutation carriers from a 5-generation family with a novel KCNJ2 mutation (c.271_282del12[p.Ala91_Leu94del]) associated with Andersen-Tawil syndrome, median age 38, 3 female.

Outcome

Clinical phenotype and occurrence of life-threatening ventricular arrhythmiashard clinical

A novel KCNJ2 mutation (c.271_282del12[p.Ala91_Leu94del]) is associated with a highly malignant arrhythmic phenotype of Andersen-Tawil syndrome, emphasizing the need for early screening and ICD consideration.

Cite This Study

Fernlund et al. (2013) studied this question.

synapsesocial.com/papers/6a7ec5f0dd8171d0d19a1aaa https://doi.org/10.1111/anec.12074

Topics

Ventricular arrhythmias Cardiac device therapy

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Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen‐Tawil Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Topics

Novel Mutation in the KCNJ2 Gene Is Associated with a Malignant Arrhythmic Phenotype of Andersen‐Tawil Syndrome

Discussion

Member takes

Implication

Structured PICO

Cite This Study

Also Consider

Topics

Also Consider