Titin-related familial dilated cardiomyopathy: factors associated with disease onset.

ABSTRACT:

Background and aims

Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv.

Methods

An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM.

Results

A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTN

SUBMITTER: Johnson R 

PROVIDER: S-EPMC12718689 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature