Brugada syndrome
Brugada (BrS) is a disorder in which the electrical activity of the heart is abnormal due to channelopathy. It increases the risk of abnormal heart rhythms and sudden death. Those affected may have episodes of syncope. The abnormal heart rhythms seen in those with Brugada syndrome often occur at rest, and may be triggered by a fever.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Passing out, sudden death
Causes — why it happens
- ·, certain medication
How it's found
- · (ECG), testing
Treatment
- ·Watchful waiting, implantable cardioverter defibrillator (ICD)
Across the channelopathy gene set (KCNH2, , SCN5A), 125 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For brugada , that's a pool of computationally-damaging, India-relevant, clinically-unresolved variants no one has systematically characterised.
A study that would help: Take the South-Asian-observed, European-absent, ClinVar-uncertain in KCNH2, , SCN5A and triage them for brugada : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.