Key result
In patients with TMEM43 p.S358L arrhythmogenic cardiomyopathy, 82.4% developed ECG abnormalities over 20.5 years, most commonly loss of the R wave in V3 and QRS prolongation.
Why the study?
The ECG is important in the diagnostic evaluation of arrhythmogenic cardiomyopathy, but ECG features associated with TMEM43 p.S358L ACM during long-term assessment needed identification.
What are the characteristic long-term ECG features in patients with TMEM43 p.S358L arrhythmogenic cardiomyopathy?
Cohort (n=68)
What are the characteristic long-term ECG features in patients with TMEM43 p.S358L arrhythmogenic cardiomyopathy?
In TMEM43 p.S358L arrhythmogenic cardiomyopathy, standard Task Force repolarization criteria and epsilon waves are rare, whereas poor R-wave progression in V3 and QRS prolongation with conduction delays are characteristic.
ECG features may aid variant-specific ACM recognition; hypothesis-generating and should not yet alter screening or risk stratification.
Background The electrocardiogram (ECG) is important in the diagnostic evaluation of arrhythmogenic cardiomyopathy (ACM). Objective The purpose of this study was to identify ECG features associated with TMEM43 p.S358L ACM during long-term assessment. Methods A total of 634 ECGs were collected from a retrospective cohort of 68 patients with TMEM43 p.S358L ACM. Abnormalities in repolarization, depolarization, conduction intervals, QRS voltage, and rhythm were analyzed. Results Sixty-eight patients (32 male, 36 female) with ≥5 ECGs (median, 9; range, 5–17) during 20.5 ± 8.0 years were included. During follow-up, 56 of 68 (82.4%) had an abnormality. Task Force criteria repolarization abnormalities were rare. Terminal activation duration ≥55 ms was common (20/32 male patients [62.5%]; 13/36 female patients [36.1%]). An epsilon wave was demonstrated in 2 female patients. Significant prolongation in the QRS duration occurred for male patients (97.3 ± 11.6 ms to 137.6 ± 24.8 ms; P < .001) and female patients (90.4 ± 12.1 ms to 117.4 ± 24.0 ms; P < .001). The most common finding was R wave <3 mm in V 3 (poor R-wave progression). Loss of the R wave in V 3 <3 mm followed by development of an intraventricular conduction delay or complete left bundle branch block was seen in most patients (42/68 [61.8%]), occurring earlier in male than in female patients ( P < .02). Conclusion Repolarization Task Force criteria and epsilon waves are rare in TMEM43 p.S358L ACM. The ECG in TMEM43 p.S358L ACM is characterized by loss of the R wave in V 3 to <3 mm and QRS prolongation with development of an intraventricular conduction delay or left bundle branch block.
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Duffett et al. (2025) conducted a cohort in TMEM43 p.S358L arrhythmogenic cardiomyopathy (n=68). TMEM43 p.S358L mutation was evaluated on ECG abnormality during follow-up. In patients with TMEM43 p.S358L arrhythmogenic cardiomyopathy, 82.4% developed ECG abnormalities over 20.5 years, most commonly loss of the R wave in V3 and QRS prolongation.
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