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
- ·
Treatment
- ·Depends on type and symptoms
Complications
- ·Heart failure
- ·Irregular heart beat
- ·Sudden death
The sections below are general education drawn from public guidelines (NHS, Mayo, CPIC, WHO, ICMR). They are not individually reviewed by a clinician and are not medical advice — always talk to a doctor about your own health.
When to see a doctor
See a doctor if you get breathless during everyday activity or when lying down, have swelling in your legs or belly, feel your heart fluttering or pounding, or tire far more easily than usual.
Call emergency services if you have chest pain, faint or nearly faint, or become suddenly very breathless. If a close family member had heart failure or died suddenly at a young age, get checked soon even without symptoms.
General guidance, not a diagnosis. When in doubt, see a doctor.
Questions to ask your doctor
- ?Which tests (like an ECG, echo, or scan) confirm this?
- ?Given my family history, should my relatives be screened too?
- ?Is my type inherited, and what does that mean for my children?
- ?What activities or exercise are safe for me?
- ?What symptoms mean I should seek care right away?
- ?How often will you need to review me?
What to note before your visit
- ·when symptoms started and what triggers them
- ·family history of heart problems or sudden death
- ·any fainting, palpitations, or breathlessness
- ·current medicines you take
Test yourself
0/4 answered4 quick questions on Cardiomyopathy. Tap an answer to check it.
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 them for : functional or family segregation to move them from 'uncertain' to a real call. Each 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 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. 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 — 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 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 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)