Article

KCNJ2 p.Val93Ile-related cardiac channelopathy with a hypertrophic cardiomyopathy- like phenotype: a case report

2026-06-24

Abstract excerpt

<title>Abstract</title> <p> <bold>Background</bold> : Andersen-Tawil syndrome (ATS) is a rare KCNJ2-related channelopathy classically characterized by periodic paralysis, ventricular arrhythmias, and craniofacial or skeletal dysmorphism. Whether KCNJ2 variants are associated with a structural cardiomyopathic phenotype remains uncertain. <bold>Case presentation:</bold> A 70-year-old Chinese man presented with...

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Literature Corpus work: b203db47-d7fa-57bb-8da9-73adf15becee
DOI: 10.21203/rs.3.rs-9759995/v1

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