Mr. Kiran (name changed) is super tensed as his 24-year old-cousin Nishant died of a sudden cardiac arrest. His death came as a shock to all family members as Nishant never had any health issues. Kiran asked the consulting cardiologist the reason behind it.

Questions asked by the cardiologist

Q. What was Nishant doing when he died?
A.  He was at the gym, working out when he died.

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, my (Kiran) father passed away at the age of 40 years 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 that was when my wife was admitted to the hospital and I thought it was because of the tension.

Taking into consideration all these answers the cardiologist suspected Nishant‘s cause of death to be cardiomyopathy and Kiran to be at risk for the same. He recommended that Kiran undergo genetic testing along with echocardiogram.

Kiran turned out to be positive for MYBPC3 (25 basepair deletion responsible for manifestation of HCM), screened in Cardiomap from Mapmygenome.

What is HCM?

Hypertrophic Cardiomyopathy is a condition wherein the heart muscles get thickened (enlarged).  This makes it harder for the heart to pump blood.  This can have serious implications like sudden cardiac death wherein the oxygen flow to the heart is stopped.

Does HCM run in families? Any tests which need to be done if family history of sudden cardiac death is there?
Yes. HCM does run in the family. If one of the parent has HCM, there is 50% chance that it is passed on to the next generation. Genetic testing can help in detecting the presence or absence of mutation.

Advice by Genetic Counselor:

Diet

Adequate water intake (6-8 glasses per day) is advised, with increased intake during warmer temperatures/climate. In case of heart failure, this may be contraindicated by the physician.

Lifestyle

Weight management is essential, with a balanced diet and healthy lifestyle. Regular dental cleaning and care (antibiotic prophylaxis if necessary) is recommended. Medications (especially cold) must not be taken without a prescription. Use of hot tub/sauna is not recommended. Smoking and drinking habits must be ceased.

Exercise

Low impact sporting activities can be pursued by the patient. He or she can also participate in mild to moderate aerobic activity based on clinical presentation (such as walking, water aerobics) under the supervision and with a companion. The practice of yoga is also beneficial. However, high weight-training and interval aerobics are contraindicated.

Next course of action for Mr. Kiran:

  • Visit a cardiologist to undergo an appropriate test to detect the thickening of the heart muscles. The cardiologist will also suggest appropriate diet and exercise to him. Mr. Kiran will also have to visit a cardiologist regularly to monitor his condition.
  • Extended family screening- Not only Mr. Kiran’s siblings need to get tested but also his paternal side need to be tested.  

Do you want to have a healthy heart?  This is what our genetic counselors advise you.

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