Spectrum of Valvular Lesions in Rheumatic Heart Disease by Echocardiography with Genetic Interpretation

Abstract

Rheumatic Heart Disease (RHD) remains a significant public health concern globally, particularly in low- and middle-income countries, contributing to substantial morbidity and mortality. This hospital-based cross-sectional study, conducted at a tertiary healthcare facility in India, aimed to investigate the distribution of valvular lesions in RHD patients, evaluate the role of the HLA-DRB10401 allele, and assess novel biomarkers (C-reactive protein, IL-6, NT- proBNP, and troponin I). Among 216 patients, mitral stenosis and regurgitation were predominant (90.3% and 97.2%, respectively), with a higher prevalence in females (61.6%) and middle-aged individuals (31–60 years). The HLA-DRB10401 allele was detected in 25% of a subgroup of 40 patients, showing elevated gene expression in postoperative and older patients. Postoperative patients exhibited significantly higher CRP and IL-6 levels, indicating persistent inflammation, while troponin I and NT-proBNP did not vary by operative status. These findings underscore the need for early genetic screening and biomarker monitoring to improve RHD management. The study highlights RHD's multifactorial nature, advocating multidisciplinary approaches to reduce its burden.