Key result
An alpha-tropomyosin (TPM1) gene missense mutation was identified in four family members with overlapping hypertrophic cardiomyopathy and Brugada syndrome, suggesting a novel myofilament pathology.
This commentary highlights the novel concept that Brugada syndrome may be caused by sarcomeric mutations altering calcium signaling, expanding its etiology beyond traditional ion channelopathies.
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Monasky et al. (2017) conducted an editorial in Hypertrophic cardiomyopathy and Brugada syndrome (n=7). alpha-tropomyosin (TPM1) gene missense mutation (c.574G>A; p.E192K) vs. Unexposed family members was evaluated. An alpha-tropomyosin (TPM1) gene missense mutation was identified in four family members with overlapping hypertrophic cardiomyopathy and Brugada syndrome, suggesting a novel myofilament pathology.
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