Hypertrophic Cardiomyopathy (HCM) — Case Study
Mr Kiran (name changed) is deeply worried. His 24-year-old cousin Nishant died of a sudden cardiac arrest at the gym. His death came as a shock to all family members as Nishant never had any known health issues. Kiran asked the consulting cardiologist what could have caused it.
Questions Asked by the Cardiologist
Q. What was Nishant doing when he died?
A. He was at the gym, working out.
Q. Did he have any fainting episodes before?
A. Yes, but we thought it was stress related.
Q. Any family history of sudden cardiac arrest?
A. Yes — Kiran’s father passed away at age 40 due to sudden cardiac arrest.
Q. Did you have any fainting episodes? Do you feel tired after strenuous exercise?
A. Yes, I did faint once, but I thought it was tension-related.
Taking these answers into consideration, the cardiologist suspected HCM and recommended that Kiran undergo genetic testing along with an echocardiogram. Kiran tested positive for the MYBPC3 mutation (25 base-pair deletion responsible for HCM), identified through Cardiomap by MapmyGenome.
What Is HCM?
Hypertrophic Cardiomyopathy is a condition where the heart muscles become thickened, making it harder for the heart to pump blood. This can lead to sudden cardiac death. HCM runs in families — if one parent has HCM, there is a 50% chance it is passed to the next generation. Genetic testing can detect the presence or absence of the mutation.
Advice from the Genetic Counsellor
Diet
Adequate water intake (6–8 glasses per day) is advised, with increased intake in warmer climates. In case of heart failure, this may be contraindicated by the physician.
Lifestyle
Weight management with a balanced diet is essential. Regular dental care is recommended. Medications must not be taken without a prescription. Hot tubs and saunas are not recommended. Smoking and alcohol must be avoided.
Exercise
Low-impact activities such as walking, water aerobics, and yoga are beneficial. High-intensity weight training and interval aerobics are contraindicated.
Next Steps for Mr Kiran
Visit a cardiologist for an echocardiogram to detect heart muscle thickening and receive appropriate diet and exercise guidance
Extended family screening — not just siblings, but the entire paternal side should be tested
Does Heart Disease Run in Your Family?
Cardiomap by MapmyGenome screens for hereditary cardiovascular conditions including HCM, arrhythmias, and other genetic heart disorders — so you can take preventive action before a crisis strikes. Backed by certified genetic counsellors and a CAP & NABL-accredited laboratory.
