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Research Paper | Cardiology Science | India | Volume 12 Issue 5, May 2023
Study of Clinical Profile of HCM Patients Carrying 25 BP Deletion in Intron 32 of Cardiac Myosin Binding Protein C (MYBPC3) Gene
Dr. Sagar Makode [2] | Dr. Ajay Bahl | Madhu Khullar | Dr. Saurabh Mehrotra | Dr Rutuja Darokar [2]
Abstract: The present study aimed to study the frequency of "25 BP" deletion" in intron 32 of "MYBPC3" gene along with clinical characteristics of the Hypertrophic Cardiomyopathy patients carrying for this mutation in Indian patients. Our study population included patients attending cardiology department, PGIMER, Chandigarh. Total 130 patients were included in the study those had an established diagnosis of hypertrophic cardiomyopathy and satisfied the inclusion criteria. Following observations noted in the study. Total 130 patients were followed up, tested and age-based comparison is done in total of 90 patients. Frequency of "MYBPC3" "25 BP" deletion in intron 32 was 4.61 percent. All patients carrying this polymorphism were heterozygous for polymorphism. Family history of Sudden cardiac death was significantly higher in patients carrying polymorphism with P value of 0.015 (83.3 % versus 29.8 % in patients with and without polymorphism respectively). Patients carrying polymorphism had age of onset earlier compared with patients without polymorphism, however difference is not significant {43.33 (+ 14.679) versus 45.34 (+14.18) }. Majority of patients in our study was male {65 (72.22 %) } and were in NYHA class II at presentation {54 (60 %) }. All cause death was higher in patients carrying polymorphism; however, this could not reach statistical significance probably due to low sample size. Similarly, we have noticed, the frequency of syncope and atrial fibrillation were higher in patients carrying polymorphism compared to patients without polymorphism {2 (9.1%) and 1 (6.3 %) versus 4 (5.9%) and 5 (6.4%) }, although not statistically significant.
Keywords: Hypertrophic cardiomyopathy, Genetic mutations, 25 BP deletion, MYBPC3
Edition: Volume 12 Issue 5, May 2023,
Pages: 688 - 695