Key result
KCNJ2 mutations in Andersen-Tawil syndrome present with a variable phenotype, including dysmorphic features in all patients, periodic paralysis affecting males more frequently than females (80% vs 20%), and ventricular arrhythmias with a risk of sudden cardiac death.
Observational (n=15)
No
KCNJ2 mutations in Andersen-Tawil syndrome present with a highly variable phenotype, including a significant risk of ventricular arrhythmias and sudden cardiac death requiring ICD placement in up to 40% of patients.
High intrafamilial variability in ATS risks misdiagnosis; extends phenotypic spectrum of KCNJ2 mutations but leaves genotype-phenotype correlations open.
INTRODUCTION: Andersen-Tawil syndrome (ATS) is a potassium channelopathy affecting cardiac and skeletal muscle. Periodic paralysis is a presenting symptom in some patients, whereas, in others, symptomatic arrhythmias or prolongation of QT in echocardiographic recordings will lead to diagnosis of ATS. Striking intrafamilial variability of expression of KCNJ2 mutations and rarity of the syndrome may lead to misdiagnosis. METHODS: We report 15 patients from 8 Polish families with ATS, including 3 with novel KCNJ2 mutations. RESULTS: All patients had dysmorphic features; periodic paralysis affected males more frequently than females (80% vs. 20%), and most attacks were normokalemic. Two patients (with T75M and T309I mutations) had aborted sudden cardiac death. An implantable cardioverter-defibrillator was utilized in 40% of cases. CONCLUSIONS: KCNJ2 mutations cause a variable phenotype, with dysmorphic features seen in all patients studied, a high penetrance of periodic paralysis in males and ventricular arrhythmia with a risk of sudden cardiac death.
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Kostera‐Pruszczyk et al. (2014) conducted an observational in Andersen-Tawil syndrome (n=15). KCNJ2 mutations was evaluated on Phenotypic expression of KCNJ2 mutations (periodic paralysis, cardiac manifestations, dysmorphic features). KCNJ2 mutations in Andersen-Tawil syndrome present with a variable phenotype, including dysmorphic features in all patients, periodic paralysis affecting males more frequently than females (80% vs 20%), and ventricular arrhythmias with a risk of sudden cardiac death.
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