D2I2.
genetic

Long QT syndrome

Long QT (LQTS) is a condition affecting repolarization (relaxing) of the heart after a heartbeat, giving rise to an abnormally lengthy QT interval. It results in an increased risk of an irregular heartbeat which can result in fainting, drowning, , or sudden death. These episodes can be triggered by exercise or stress. Some rare forms of LQTS are associated with other symptoms and signs, including deafness and periods of muscle weakness.

Underlined words are explained — tap any of them.

Symptoms — what it feels like

  • ·Fainting, hearing loss,

Causes — why it happens

  • ·, certain medications, low blood , low blood calcium, heart failure

How it's found

  • · (EKG), findings, testing

Treatment

  • ·Avoiding strenuous exercise, getting sufficient , beta , implantable defibrillator

Complications

  • ·Sudden death
An open question — could you help answer it?

Across the channelopathy gene set (KCNH2, , SCN5A), 125 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For long qt , 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 long qt : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.

Plain-language summary adapted from Wikipedia. Not medical advice.