Article
Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1
14 Jan 2021
Abstract excerpt
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...
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