AIIMS discovers new cardiac mutations

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NEW DELHI: After Covid-19, many people are dying of cardiac arrest while playing, dancing, or exercising, leaving little time to save them. In this situation, doctors at Delhi AIIMS have found new hope for saving lives in the future, thanks to the discovery of some new mutations in the cardiac genes of Indian patients.

When AIIMS doctors realised that these sudden deaths were not related to Covid-19, the Pathology Department at AIIMS decided to conduct molecular mutation tests. The interim report of this study was quite shocking.

In an exclusive interview with The Sunday Guardian, Professor Dr Sudheer Arava from the Pathology Department of AIIMS revealed that they have prepared molecular mutation test reports for 100 cases out of about 230 sudden death cases, with work ongoing for the remaining 130 cases.

The interim report on 100 cases showed that some had previously known cardiac gene mutations, while new cardiac gene mutations were found in about 40 to 50% of the cases. This new mutation has been seen for the first time in the world. It will take another year to prepare the complete report on all cases.

According to Dr Arava, the molecular test called Whole Exome Sequencing (WES) detects heart function, chromosome abnormalities, and body cell function.

These mutations are categorised into three types: pathogenic, likely pathogenic, and variants of uncertain significance (VUS). The mutation found in the hearts of Indian patients falls under the VUS category. Although mutations in heart chromosomes are documented globally, what AIIMS has discovered is entirely new and requires further study.
Moreover, people living under stress also experience heart weakening, as their bodies fail to respond properly over time.

This new mutation in the VUS category brings hope for doctors because, once the full report is analysed, it may help save people whose family members have died from sudden cardiac arrest.

In addition, Dr R. Narang, Head of the Cardiology Department at AIIMS Delhi, has advised people to follow eight key measures and undergo tests, including ECG, before exercising or going to the gym.

Since Covid-19 has weakened many hearts, sudden deaths can be largely prevented by adopting several important measures. These include avoiding smoking, controlling diabetes, managing high blood pressure, and keeping cholesterol levels in check.

Additionally, reducing psychosocial stress, avoiding abdominal obesity, exercising regularly, and including more fruits and vegetables in the diet can significantly improve heart health and reduce the risk of sudden cardiac events.

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