Layer 1 · Parallel pathway

Cardiac Genetics

Founder variants in the heart's structural blueprint.

1 studies in the evidence baseMaturity: Provisionally supportedUpdated nightly

The idea

Some heart muscle disease runs through families on single genes, and South Asian populations carry their own set of variants, some found nowhere else. For an individual family the stakes are enormous and the response is concrete: one diagnosis should trigger screening across relatives. This is the corner of the framework where genetics stops being a probability and becomes a family phone call.

Key studies

  • Clinically Actionable Hypertrophic Cardiomyopathy Genes in South Asian Indian Patients. PMID 41128141

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