Key result
Propafenone plus acetazolamide markedly reduces paralytic episodes and PVCs in pediatric Andersen-Tawil syndrome.
Why the study?
Andersen-Tawil syndrome is a rare disorder caused by KCNJ2 mutations, and novel mutations with associated features like subclinical hypothyroidism have not been previously described.
Case Report (n=1)
No
This case report identifies a novel de novo KCNJ2 mutation causing Andersen-Tawil syndrome with a potential new association with subclinical hypothyroidism, demonstrating symptomatic control with propafenone and acetazolamide.
May support propafenone-acetazolamide in pediatric Andersen-Tawil syndrome; hypothesis-generating and requires prospective validation.
Background Andersen-Tawil syndrome (ATS) is a rare disorder featuring ventricular arrhythmias, periodic paralysis, and skeletal anomalies. KCNJ2 mutations account for about 70% of cases. We report a child with a novel KCNJ2 mutation and subclinical hypothyroidism, an association not previously described. Case presentation A 10-year-old boy presented with episodic limb weakness, palpitations, low-set ears, and bilateral fifth-finger bending. Labs showed spontaneous normokalemia without potassium supplementation, elevated creatine kinase, and subclinical hypothyroidism. ECG revealed frequent ventricular premature beats. Genetic testing identified a heterozygous KCNJ2 c.461G > A (p.C154Y) mutation, confirmed as de novo . Results The patient was treated with propafenone and acetazolamide. At six months, paralytic episodes decreased from weekly to one mild event, and premature beats reduced markedly on Holter. No adverse effects occurred. Conclusion This case expands the KCNJ2 mutation spectrum and suggests thyroid screening may be considered in ATS. With proper treatment, short-term prognosis is favorable.
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Feng et al. (2026) conducted a case report in Andersen-Tawil syndrome (n=1). Propafenone and acetazolamide was evaluated on Symptom reduction (paralytic episodes and ventricular premature beats). Treatment with propafenone and acetazolamide reduced paralytic episodes from weekly to one mild event over six months and markedly reduced premature beats in a child with Andersen-Tawil syndrome.
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