The data set consisted of 12-lead ECGs from patients between 18 and 85 years old acquired in the University Medical Center Utrecht from January 2000 to August 2019. All extracted data were deidentified in accordance with the EU General Data Protection Regulation, and written informed consent was, therefore, not required by the ethical committee. All ECGs were interpreted by a physician as part of the clinical workflow, and these free-text annotations were structured using a text-mining algorithm described before.3 We excluded all ECGs of insufficient quality and all ECGs with supraventricular and ventricular arrhythmias (excluding premature atrial and ventricular complexes), paced rhythms, undefined rhythms, and signs of acute ischemia.

All index patients in the data set who carry the genetic PLN p.Arg14del mutation and their relatives that tested positive were identified. ECGs acquired after the implantation of a left ventricular assist device or heart transplantation were excluded. Only the first acquired ECG of each mutation carrier was used for development of the model.

The control group was derived from the remaining data set and consisted of 365 173 ECGs of 147 098 unique patients. Per mutation carrier, 20 controls were matched using propensity score matching on age and sex. This number was chosen to have sufficient samples to train the DNN without having a too severe class imbalance. Only one ECG per control subject, sampled without replacement, was used to make sure every subject was only used once. The matched groups were randomly split in an 80:20 manner to training and test sets.

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