Why the study?
Does the presence of an SCN5A mutation correlate with distinct cardiovascular magnetic resonance parameters and clinical events in patients with Brugada syndrome?
Population
81 consecutive genetically screened Brugada syndrome (BrS) patients and 30 healthy controls
Comparison
Presence of SCN5A mutation (16 patients; 20%) vs BrS patients without SCN5A mutation and healthy…
Design
Cross-sectional
Key result
Brugada syndrome patients with an SCN5A mutation had larger RV volumes and lower ejection fraction, with RV end-diastolic and end-systolic volumes predicting mutation status (AUC 0.81 for both).
Authors
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RV volumes on CMR may predict SCN5A mutations in Brugada syndrome; hypothesis-generating for risk stratification and requires validation.
Observational (n=111)
Does the presence of an SCN5A mutation correlate with distinct cardiovascular magnetic resonance parameters and clinical events in patients with Brugada syndrome?
SCN5A mutations in Brugada syndrome are associated with distinct structural changes in the right ventricle on CMR and a higher likelihood of spontaneous type 1 ECG patterns, which correlate with clinical events.
Rudic et al. (2015) conducted an observational in Brugada syndrome (n=111). SCN5A mutation vs. No SCN5A mutation and healthy controls was evaluated on Right ventricular volumes, right ventricular ejection fraction, and spontaneous type 1 BrS-ECG. Brugada syndrome patients with an SCN5A mutation had larger RV volumes and lower ejection fraction, with RV end-diastolic and end-systolic volumes predicting mutation status (AUC 0.81 for both).