Cardiomyopathy
is a group of primary diseases of the heart muscle. Early on there may be few or no symptoms. As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. An irregular heart beat and fainting may occur. Those affected are at an increased risk of sudden death.
Underlined words are explained — tap any of them.
Symptoms — what it feels like
- ·Shortness of breath
- ·Feeling tired
- ·Swelling of the legs
Causes — why it happens
- ·Unknown
- ·
- ·Heavy alcohol use
- ·Tobacco smoking
- ·Heavy metals
- ·Amyloidosis
Treatment
- ·Depends on type and symptoms
Complications
- ·Heart failure
- ·Irregular heart beat
- ·Sudden death
Across the gene set (LMNA, , MYH7, TNNI3, TNNT2), 150 -'' are actually seen in South Asians () - many European-absent and still clinically 'uncertain'. For 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 : functional assays or family segregation to move them from 'uncertain' to a real call. Each reclassified is a usable diagnostic result.
A 25-letter deletion carried by tens of millions of South Asians — that European gene panels were never built to see
A 25-base-pair deletion in the heart gene (Δ25bp) is found almost only in South Asians — roughly 4–8% carry it — and is essentially absent from populations outside South/Southeast Asia. Carriers have about 7-fold higher odds of heritable and heart failure (Dhandapany et al., Nature 2009).
At ~4% of ~1.5 billion South Asians, that is on the order of 60 million carriers — one of the most common disease-linked DNA in any human population, and nearly invisible to built on European cohorts. It is the flagship example of what an blind spot costs.
It is one of the best-characterised South-Asian , yet is incomplete and variable — most carriers never fall ill. WHO progresses to disease, and why, is unresolved. Our scan finds 47 observed South-Asian variants in alone, on top of the wider gene set.
A South-Asian carrier tracking who progresses — the and lifestyle modifiers that turn a common deletion into overt disease. Directly clinically useful, and a natural first D2I2-funded project.
- Dhandapany et al., 'A common MYBPC3 variant associated with cardiomyopathies in South Asia', Nature Genetics 2009 ↗
- Viswanathan et al., reevaluation of MYBPC3Δ25bp in HCM, Circ Genom Precis Med 2020 ↗
- D2I2 rare-pathogenic South-Asian scan (gnomAD × AlphaMissense)