Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1.

ABSTRACT:

Importance

Cardiac fibrosis is exceedingly rare in young adults. Identification of genetic variants that cause early-onset cardiomyopathy may inform novel biological pathways. Experimental models and a single case report have linked genetic deficiency of plasminogen activator inhibitor-1 (PAI-1), a downstream target of cardiac transforming growth factor β, with cardiac fibrosis.

Objective

To perform detailed cardiovascular phenotyping and genotyping in young adults from an Amish family with a frameshift variant (c.699_700dupTA) in SERPINE1, the gene that codes for PAI-1.

Design, setting, and participants

This observational study included participants from 3 related nuclear families from an Amish community in the primary analysis and participants from the extended fami

SUBMITTER: Khan SS 

PROVIDER: S-EPMC7807391 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature