Key result
The molecular mechanism of Brugada syndrome remains elusive in 70-85% of cases, suggesting a complex interplay of rare and common genetic variants rather than a strictly Mendelian inheritance.
Why the study?
The molecular mechanism of Brugada syndrome remains elusive in 70-85% of cases, and the causative role of previously reported genes and the interplay between rare and common variants remain uncertain.
Design
Review
Authors
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Challenges prior gene attributions in BrS; leaves open true causative mechanisms in most patients.
Brugada syndrome is increasingly recognized as a potentially oligogenic or polygenic condition rather than a strict Mendelian disease, highlighting the need for polygenic risk scores and further genetic studies.
Monasky et al. (2020) conducted a review in Brugada syndrome. The molecular mechanism of Brugada syndrome remains elusive in 70-85% of cases, suggesting a complex interplay of rare and common genetic variants rather than a strictly Mendelian inheritance.
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