What does this research mean for the field?

In Indian patients with hypertrophic cardiomyopathy, the 25 BP deletion in intron 32 of the MYBPC3 gene has a frequency of 4.61% and is significantly associated with a higher family history of sudden cardiac death. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

May 5, 2023International Journal of Science and Research (IJSR)1 citationsOpen Access

Study of Clinical Profile of HCM Patients Carrying 25 BP Deletion in Intron 32 of Cardiac Myosin Binding Protein C (MYBPC3) Gene

SBS. Bahl

Structured PICO

Does the presence of 25 BP deletion in intron 32 of the MYBPC3 gene affect clinical characteristics and outcomes in Indian patients with hypertrophic cardiomyopathy?

Population

130 Indian patients with an established diagnosis of hypertrophic cardiomyopathy (age-matched comparison in 90 patients), mean age 45.34, 72.22% male, attending a tertiary cardiology department.

Intervention

Presence of 25 BP deletion in intron 32 of the MYBPC3 gene

Comparator

Absence of 25 BP deletion in intron 32 of the MYBPC3 gene

Outcome

Frequency of the polymorphism and clinical characteristics including family history of sudden cardiac death, all-cause mortality, syncope, and atrial fibrillation

The 25 BP deletion in intron 32 of the MYBPC3 gene is present in 4.61% of North Indian patients with hypertrophic cardiomyopathy and is significantly associated with a family history of sudden cardiac death.

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 carryingpolymorphism; 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.

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