Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study.

ABSTRACT: Idiopathic dilated cardiomyopathy (DCM) is a common cardiomyopathy with the prevalence of 1:250, and at least one-third of all the cases are inherited. Mutations in the TTN gene are considered as the most frequent cause of inherited DCM and cover 10-30% of the cases. The studies were mainly focused on the adult or mixed age group of patients with DCM. The mutation rate in the TTN gene, the characteristics of manifestations and their prognostic significance in childhood have not been studied. To determine TTN mutation rate in children with DCM and the relevance of including this gene in the DNA diagnostic protocol for paediatric DCM, complete clinical and instrumental examination of 36 DCM patients (up to 18 years) with the manifestation of the disease was conducted in specialised cardiolog

SUBMITTER: Zaklyazminskaya E 

PROVIDER: S-EPMC6848193 | biostudies-literature | 2019 Nov

REPOSITORIES: biostudies-literature