Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. Specific SCN5A mutations had initially been considered to cause specific phenotypes. More recently, some SCN5A mutations have been associated with overlap syndromes, characterized by phenotypic heterogeneity within and between mutation carriers. Here we report and associate the presence of the p.Y1449C SCN5A mutation in a single family with a spectrum of cardiac phenotypes including conduction disease, Brugada syndrome and atrial arrhythmias, for the first time to our knowledge.

Introduction Atrial fibrillation is often asymptomatic and un‐diagnosed in the community resulting in an increased risk of heart failure and stroke to those patients. We evaluated the effectiveness, tolerability, and accuracy of a novel six‐channel electrocardiogram digital‐health screening device, the RhythmPad, for the detection of atrial fibrillation. Methods Seven hundred and fifty‐two participants attending the cardiology department were recruited. Two recordings were taken—a six‐lead electrocardiogram using the RhythmPad device and a standard 12‐lead electrocardiogram. Recorded traces were analyzed by two blinded cardiologists. The computer‐generated automated diagnostic reports from both systems were also compared. Post‐participation feedback was obtained from study participants using a three‐part questionnaire. Results The sensitivity of the six‐lead electrocardiogram compared to the 12‐lead electrocardiogram, analyzed by two blinded cardiologists, for the detection of normal sinus rhythm was 95.9%, with a specificity of 97.2%. The sensitivity for the detection of atrial fibrillation using the six‐lead ECG was 93.4%, with specificity 96.8%. The six‐lead automated diagnostic report had a sensitivity and specificity of 97.5% and 98.6%, respectively, for correctly diagnosing normal sinus rhythm. For the correct diagnosis of atrial fibrillation, the six‐lead automated diagnostic report had a sensitivity and specificity of 95.4% and 98.8%, respectively. A total of 95.4% of participants found RhythmPad to be comfortable, with only 0.5% preferring the 12‐lead ECG device in comparison to six‐lead ECG acquisitions. Conclusion The RhythmPad digital health device and its automated diagnostic report were highly accurate in detecting atrial fibrillation when compared to a standard 12‐lead electrocardiogram.

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