Feddo Kirkels

Arrhythmic Risk Prediction in ARVC | 169 RESULTS Clinical characteristics From 439 eligible patients, 130 were excluded due to prior VA, 146 were family-members carrying a pathogenic or likely pathogenic (P/LP) genetic variant who did not fulfil a definite TFC diagnosis and 13 were excluded due to various other reasons as shown in Supplemental Figure 1. Hence, the final cohort consisted of 150 patients (Table 1, see Supplemental Table 3 for data per centre) with a definite ARVC diagnosis and no prior VA who underwent echocardiographic deformation imaging. Mean age at baseline echocardiography was 41 ± 17 years, 75 (50%) patients were male, and 51 (34%) were proband. Median follow-up duration was 6.3 (IQR 3.1 – 9.8) years. The majority of patients (86%) were carriers of a P/LP genetic variant, of which mutations in the PKP2 gene (66%) were most prevalent. Table 1. Baseline characteristics of ARVC patients without and with sustained VA during follow-up All (n=150) No VA (n=113) VA (n=37) p-value Demographics Age at echocardiography, yrs 41.3 ± 17.1 41.8 ± 17.3 39.8 ± 16.8 0.558 Male 75 (50) 54 (48) 21 (57) 0.449 Probands 51 (34) 30 (27) 21 (57) 0.002 Genetic status P/LP variant PKP2 DSP DSG2 PLN Multiple Other 129 (86) 99 (66) 3 (2) 5 (3) 18 (12) 1(1) 3 (2) 102 (90) 74 (66) 3 (3) 5 (4) 16 (14) 1 (1) 3 (3) 27 (73) 25 (68) 0 (0) 0 (0) 2 (5) 0 (0) 0 (0) 0.018 Clinical history Any cardiac symptoms 105 (70) 73 (65) 32 (87) 0.021 Recent cardiac syncope 12 (8) 2 (2) 10 (27) <0.001 Treatment at baseline ICD 19 (13) 12 (11) 7 (19) 0.302 Anti-arrhythmic drugs 24 (16) 18 (16) 6 (16) 1 Beta-blockers 45 (30) 33 (30) 12 (32) 0.893 Clinical phenotype Total TFC score 5 (4-6) 5 (4-6) 7 (5-8) <0.001 Age at diagnosis 40.7 ± 16.7 41.3 ± 16.6 38.8 ± 17.1 0.436 ECG TWI in ≥3 precordial leads 57 (38) 38 (34) 19 (51) 0.078 TWI in ≥2 inferior leads 22 (15) 14 (12) 8 (22) 0.185 PVC count per 24h 497 (48 – 2322) 281 (31 – 1496) 894 (757 – 7884) <0.001 8

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