The IAAM LTBP4 Haplotype is Protective Against Dystrophin-Deficient Cardiomyopathy.

ABSTRACT:

Background

Dilated cardiomyopathy (DCM) is a major complication of, and leading cause of mortality in Duchenne muscular dystrophy (DMD). Its severity, age at onset, and rate of progression display wide variability, whose molecular bases have been scarcely elucidated. Potential DCM-modifying factors include glucocorticoid (GC) and cardiological treatments, DMD mutation type and location, and variants in other genes.

Methods and results

We retrospectively collected 3138 echocardiographic measurements of left ventricular ejection fraction (EF), shortening fraction (SF), and end-diastolic volume (EDV) from 819 DMD participants, 541 from an Italian multicentric cohort and 278 from the Cooperative International Neuromuscular Group Duchenne Natural History Study (CINRG-DNHS). Using

SUBMITTER: Bello L 

PROVIDER: S-EPMC10977446 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature