ArticleJACC. Case reports2026
Phenotypic Effects of a Novel HCN4 c.1494C>A (p.Ser498Arg) Sequence Variation.
Article in JACC. Case reports, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundHyperpolarization-activated cyclic nucleotide-gated (HCN4) channel mutations have been associated with sinus node dysfunction (SND), atrial fibrillation (AF), and left ventricular noncompaction (LVNC). CASE SUMMARY: We report a novel sequence variation (SV) in exon 4 of HCN4 c.1494C>A (p.Ser498Arg) in a multigenerational cohort that included a 16-year-old boy and his father. The index patient presented with sinus bradycardia, AF, and LVNC, while the father exhibited AF and LVNC. DISCUSSION: We characterize the phenotypic effects of a novel SV in HCN4 c.1494C>A (p.Ser498Arg), which include SND, AF, and LVNC. Given their rarity, HCN4 mutations are poorly characterized, particularly in children. Our findings highlight the importance of further systemic studies to address significant gaps in genotype-phenotype correlation. TAKE-HOME MESSAGES: Loss-of-function HCN4 variants cause diverse phenotypes. We describe a novel pathogenic HCN4 SV c.1494C>A (p.Ser498Arg) causing overlapping SND, AF, and LVNC phenotype in a multigenerational cohort.
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