Hypertrophic cardiomyopathy
Hypertrophic is a condition in which muscle of the heart become thickened without an obvious cause. The parts of the heart most commonly affected are the interventricular septum and the ventricles. This results in the heart being less able to pump blood effectively and also may cause electrical conduction problems. Specifically affected are the bundle branches that conduct impulses through the interventricular septum and into the Purkinje fibers, as these are responsible for the depolarization of contractile cells of both ventricles.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Feeling tired, leg swelling, shortness of breath, chest pain, fainting
Causes — why it happens
- ·, Fabry disease, Friedreich's ataxia, amyloidosis, certain medications
How it's found
- ·, echocardiogram, stress testing, testing
Treatment
- ·Medications, implantable defibrillator,
Complications
- ·Heart failure, irregular heartbeat, sudden death
Outlook
- ·Less than 1% per year risk of death (with treatment)
Across the gene set (LMNA, , MYH7, TNNI3, TNNT2), 150 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For hypertrophic cardiomyopathy, 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 LMNA, , MYH7, TNNI3, TNNT2 and triage them for hypertrophic : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.