Troponin I mutation associated with Restrictive Cardiomyopathy with mild hypertrophy

In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restrictive cardiomyopathy with mild hypertrophy. This study suggests that the mutation in TNNI3 gene may confer phenotypic pathogenecity. The variants in hotspot region of TNNI3 gene mutation has been found to be associated with wide range of cardiomyopathy phenotype i.e. form restrictive cardiomyopathy to restrictive cardiomyopathy with hypertrophy to pure hypertrophic cardiomyopathy.