Mutation profile of FLNC gene and its prognostic relevance in patients with hypertrophic cardiomyopathy.

ABSTRACT:

Background

Filamin C (FLNC) mutation was reported as a cause of HCM, with a high probability of sudden cardiac death. However, the mutation profile of FLNC, and its relationship with phenotypic expression in HCM, remains to be elucidated.

Methods

In this study, FLNC gene was sequenced in 540 HCM patients and 307 healthy controls.

Results

We found that 39 (7.2%) patients carried FLNC mutations, with a similar frequency to that of controls (4.2%, p = 0.101). Pedigree analysis showed that mutations were not well segregated with HCM. The baseline characteristics between HCM patients, with and without mutations, were comparable. FLNC mutations did not increase the risk for either all-cause mortality (HR 0.746, 95% CI 0.222-2.295, p = 0.575) or cardiac mortality (HR 0.615,

SUBMITTER: Cui H 

PROVIDER: S-EPMC6305649 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature