PTPN11 Mutation, A Heartbreaking Revelation

Dilated cardiomyopathy (DCM) exhibits an annual incidence of 5-7 cases per 100,000 persons and a worldwide prevalence of 1:2500 individuals, with a genetic involvement in 35% of all cases (TTN and LMNA gene mutation accounting for the majority). Amongst the numerous genetic mutations, prior research has linked PTPN11 gene mutations to hypertrophic cardiomyopathy. Our case sheds light on the association between PTPN11 mutation and the development of isolated DCM.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 324 Source Type: research