D2I2.
cardiovascular

Dilated cardiomyopathy

(DCM) is a condition in which the heart becomes enlarged and cannot pump blood effectively. Symptoms vary from none to feeling tired, leg swelling, and shortness of breath. It may also result in chest pain or fainting. can include heart failure, heart valve disease, or an irregular heartbeat.

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

  • ·, alcohol, cocaine, certain toxins, of pregnancy, in many cases the cause remains unclear, certain

How it's found

  • ·Supported by , chest X-ray, echocardiogram

Treatment

  • ·Lifestyle changes, medications, implantable cardioverter defibrillator, resynchronization therapy (CRT), heart

Complications

  • ·Heart failure, heart valve disease, irregular heartbeat

Outlook

  • ·Five-year survival rate ~50%
An open question — could you help answer 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 triage them for : 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.