SCN5A variants in ARVD/C patients were associated with prolonged QRS duration (119 vs. 94 ms, P < 0.01) and major structural abnormalities on cardiac imaging.
Observational (n=281)
Are SCN5A variants associated with prolonged QRS duration and structural abnormalities in patients with ARVD/C?
SCN5A variants are present in a small subset of ARVD/C patients and are associated with prolonged QRS duration and major structural abnormalities, suggesting non-canonical mechanisms for disease pathogenesis.
Absolute Event Rate: 119% vs 94%
p-value: p=< 0.01
AIMS: 1.5) in ARVD/C. METHODS AND RESULTS: 1.5 (P = 0.005) and N-Cadherin (P = 0.026) clusters at the intercalated disc. Subsequently, we sequenced SCN5A in an additional 281 ARVD/C patients (60% male, 34.8 ± 13.7 years, 52% desmosomal mutation-carriers). Five (1.8%) subjects harboured a putatively pathogenic SCN5A variant (p.Tyr416Cys, p.Leu729del, p.Arg1623Ter, p.Ser1787Asn, and p.Val2016Met). SCN5A variants were associated with prolonged QRS duration (119 ± 15 vs. 94 ± 14 ms, P < 0.01) and all SCN5A variant carriers had major structural abnormalities on cardiac imaging. CONCLUSIONS: 1.5 dysfunction causes cardiomyopathy.
Riele et al. (Wed,) conducted a observational in Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) (n=281). SCN5A variants vs. Non-carriers was evaluated on QRS duration (p=< 0.01). SCN5A variants in ARVD/C patients were associated with prolonged QRS duration (119 vs. 94 ms, P < 0.01) and major structural abnormalities on cardiac imaging.
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