HYBRID EVENT: You can participate in person at Madrid, Spain or Virtually from your home or work.

5th Edition of Cardiology World Conference

September 5-7, 2024 | Madrid, Spain

September 05 -07, 2024 | Madrid, Spain
Cardio 2024

The role of genetic polymorphisms in hypertrophic cardiomyopathy among Indian populations

Aman Sinha, Speaker at Cardiology Conferences
Shubhkamna Heart Hospital, India
Title : The role of genetic polymorphisms in hypertrophic cardiomyopathy among Indian populations


Background: Hypertrophic cardiomyopathy (HCM) is a general genetic cardiovascular disorder characterized by the thickening of the myocardial wall, which can lead to heart failure and sudden cardiac death. While the genetic basis of HCM has been extensively studied in Western populations, there is limited data on the genetic polymorphisms associated with HCM in Indian populations. The study aims to investigate the role of specific genetic polymorphisms in the development and progression of HCM among Indian patients.

Methods: The study included 200 Indian patients diagnosed with HCM and 200 age- and sex-matched healthy controls. Blood samples were gathered, and DNA was extracted for genetic analysis. The study focused on analyzing polymorphisms in key genes known to be associated with HCM, including MYH7, MYBPC3, TNNT2, and TNNI3. Polymerase chain reaction (PCR) and DNA sequencing were employed to identify and characterize the genetic variants. Statistical analyses were performed to assess the association between specific polymorphisms and the presence of HCM.

Results: The study identified several polymorphisms in the MYH7 and MYBPC3 genes that were significantly associated with HCM in the Indian population. The most notable polymorphism, MYH7-R403Q, was present in 18% of HCM patients compared to 5% of controls (p<0.001). Additionally, the MYBPC3-D770N variant was observed in 22% of HCM individuals versus 7% of controls (p<0.001). Other polymorphisms in the TNNT2 and TNNI3 genes showed a weaker association with HCM. Haplotype analysis revealed that certain combinations of polymorphisms conferred a higher risk of developing HCM.

Conclusion: This study highlights the significant role of specific genetic polymorphisms, particularly in the MYH7 and MYBPC3 genes, in the pathogenesis of hypertrophic cardiomyopathy among Indian populations. The findings underscore the importance of genetic screening and counseling in the management of HCM.

Audience Take Away:

Learning Outcomes and Practical Applications:

1. Identification of Key Genetic Polymorphisms in HCM:

The audience will learn about the specific genetic polymorphisms in the MYH7 and MYBPC3 genes that are significantly associated with hypertrophic cardiomyopathy (HCM) in Indian populations.

This knowledge can be used by clinicians and genetic counsellors to better understand the genetic risk factors for HCM, enabling more accurate diagnosis and risk assessment.

Helps in identifying individuals at higher risk for HCM, allowing for early intervention and personalized treatment plans.

2. Genetic Screening and Counselling:

Attendees will gain insights into the importance and methodology of genetic screening for HCM-related polymorphisms in Indian patients.

Healthcare providers can implement genetic screening programs to identify carriers of HCM-related polymorphisms and provide appropriate genetic counseling to patients and their families.

Enhances patient care by providing targeted prevention strategies and informed family planning advice.

3. Expanding Research and Teaching:

Faculty and researchers will be equipped with new genetic insights that can be incorporated into their ongoing research or used as educational material in medical genetics courses.

This research can form the basis for further studies exploring the genetic underpinnings of HCM and other cardiovascular diseases, as well as serving as case studies in teaching.

Expands the body of knowledge in cardiovascular genetics, fostering new research opportunities and enhancing educational content.

4. Additional Benefits

  • Improves Patient Outcomes: By applying genetic insights, clinicians can improve the overall management and prognosis of patients with HCM
  • Reduces Healthcare Costs: Early identification of at-risk individuals can lead to preventive measures that reduce the need for more extensive and costly treatments later on
  • Enhances Professional Knowledge: Attendees will gain a deeper understanding of the genetic factors involved in HCM, enhancing their expertise in cardiovascular genetics
  • Promotes Personalized Medicine: The findings support the move towards personalized medicine, where treatment is tailored to the genetic profile of each patient, improving overall healthcare quality