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

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...

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Vydáno v:JAMA Cardiol
Hlavní autoři: Khan, Sadiya S., Shah, Sanjiv J., Strande, Jennifer L., Baldridge, Abigail S., Flevaris, Panagiotis, Puckelwartz, Megan J., McNally, Elizabeth M., Rasmussen-Torvik, Laura J., Lee, Daniel C., Carr, James C., Benefield, Brandon C., Afzal, Muhammad Zeeshan, Heiman, Meadow, Gupta, Sweta, Shapiro, Amy D., Vaughan, Douglas E.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Medical Association 2021
Témata:
Brief Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7807391/
https://ncbi.nlm.nih.gov/pubmed/33439236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1001/jamacardio.2020.6909
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