Novel mutation in KCNJ2 gene causes long QT interval syndrome type 7 and learning disability: A case report.

ABSTRACT:

Rationale

Long QT interval syndrome type 7 (LQT7) is a rare hereditary multisystem disorder characterized by a classic triad of ventricular arrhythmias with QT interval prolongation, periodic paralysis, and distinctive skeletal and facial features. The Kir2.1 protein is encoded by the KCNJ2 gene, which has been associated with LQT7.

Patient concerns

We report an 8-year-old boy who presented with frequent premature ventricular contraction with QRS electrical alternans, QT interval prolongation, bidirectional ventricular tachycardia, and learning disability with poor school performance. Gene sequencing revealed a novel missense mutation in the KCNJ2 gene (c.224 C>A, p.Thr75Lys).

Diagnoses

The patient was diagnosed as LQT7 and a learning disability.

Interventions

SUBMITTER: Zhang HY 

PROVIDER: S-EPMC11688009 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature