Key result
A heterozygous CLCN1 gene variant was identified in a family with autosomal dominant myotonia congenita and coexisting Brugada syndrome, highlighting a potential overlap between skeletal and cardiac channelopathies.
Why the study?
Extramuscular manifestations are generally not considered present in chloride skeletal channelopathies, but cardiac manifestations have recently been described.
Population
One family with autosomal dominant myotonia congenita and Brugada syndrome
Design
Case report
Authors
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May support ECG screening in myotonia congenita families; leaves open causal CLCN1-Brugada overlap.
Case Report (n=4)
No
This case report highlights the rare coexistence of myotonia congenita and Brugada syndrome, suggesting that patients with non-dystrophic myotonias should undergo thorough cardiac evaluation including a 12-lead ECG.
Cordenier et al. (2022) conducted a case report in Myotonia congenita and Brugada syndrome (n=4). CLCN1 gene variant (c.2287C>A, p.Gln763Lys) was evaluated on Clinical and electrophysiological phenotype of non-dystrophic myotonia and Brugada syndrome. A heterozygous CLCN1 gene variant was identified in a family with autosomal dominant myotonia congenita and coexisting Brugada syndrome, highlighting a potential overlap between skeletal and cardiac channelopathies.
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