Phenotypic expressions of a novel mutation in the MYH7 gene responsible for hypertrophic cardiomyopathy in Pune population

Abstract

Introduction and Aim: Hypertrophic cardiomyopathy (HCM) are the most common kind of cardiac disease that causes left ventricular asymmetric hypertrophy (LVH) or right ventricular hypertrophy (RVH) and non-dilated ventricular chambers. Heterozygous mutation in the MYH7 gene on chromosome 14 causes Left ventricular hypertrophy. The objective of our study was to unravel the mutation spectrum in HCM positive patients and find out novel mutation in MYH7 gene and the impact of these mutations on the pathophysiology of cardiac functioning. Materials and Methods: Identification and confirmation of HCM patients was done on the basis of the thickness of the Interventricular septum and Left ventricular wall ( >13mm ; >15mm ). Extraction of DNA from the whole blood of HCM patients and healthy population using the standard phenol- chloroform extraction method was carried out. Polymerase Chain Reaction (PCR) was performed, and samples were processed for Sanger sequencing. Alter the structural arrangement and characteristics of respective mRNAs software’s RNA Fold Web server. Results: We found a novel mutation in the MYH7 gene, which could cause phenotypic expressions similar to that of HCM. Conclusion: Mutation in the gene may be responsible for causing hypertrophic cardiomyopathy. The mutations reported in our study, are responsible to alter the structural arrangement and characteristics of respective mRNAs.