Key result
KCNH2 mutations in Brugada syndrome show IKr gain-of-function and link to shorter QTc versus SCN5A.
Why the study?
Do KCNH2 mutations cause gain-of-function effects and specific ECG phenotypes in patients with Brugada syndrome?
Observational (n=236)
Do KCNH2 mutations cause gain-of-function effects and specific ECG phenotypes in patients with Brugada syndrome?
Gain-of-function KCNH2 mutations are present in a subset of Brugada syndrome patients and are associated with shorter QTc intervals, partially explaining their ECG findings.
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Supports KCNH2 testing in Brugada syndrome with short QTc; leaves open effects on risk stratification pending larger cohorts.
Wang et al. (2014) conducted an observational in Brugada syndrome (n=236). KCNH2 mutations vs. SCN5A and CACNA1C mutations was evaluated on I(Kr) channel function and ECG phenotypes (QTc interval, QRS duration). Four KCNH2 mutations identified in Brugada syndrome probands exerted gain-of-function effects on I(Kr) channels and were associated with shorter QTc intervals compared to SCN5A mutation carriers.
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