Key result
Quinidine suppresses refractory atrial and ventricular arrhythmias caused by a novel SCN5A L939P mutation.
Why the study?
Mutations in SCN5A cause diverse genetic arrhythmia syndromes, and novel clinical presentations associated with specific mutations continue to be identified.
Case Report (n=2)
Describes a novel SCN5A mutation associated with a distinct clinical syndrome of incessant atrial and ventricular tachycardias.
Suggests quinidine consideration in refractory SCN5A tachycardias; extends phenotypes but leaves open generalizability.
Mutations in SCN5A, which encodes the voltage-gated Nav1.5 channel, cause a variety of genetic arrhythmia syndromes, including long QT syndrome type 3,1 Brugada syndrome,2 sinus node dysfunction,3 atrial fibrillation,4 progressive conduction system disease,5 dilated cardiomyopathy,6 and overlap syndromes.7 Recently, a syndrome characterized by multifocal ectopic Purkinje potential contractions (MEPPC) has been described.8 We present here 2 unrelated patients with nearly identical clinical presentations of initially incessant atrial and subsequently ventricular tachycardia (VT), carrying the same novel SCN5A mutation.
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Papagiannis et al. (2021) conducted a case report in Incessant atrial and ventricular tachycardias (n=2). Quinidine vs. Other antiarrhythmic medications and catheter ablation (historical) was evaluated on Arrhythmia control. A novel SCN5A L939P mutation causes a genetic arrhythmia syndrome characterized by incessant atrial and ventricular tachycardias that are resistant to standard therapies but responsive to quinidine.
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