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Case Report: Fabry cardiomyopathy associated with a novel truncating GLA variant, c.837_838delinsAT, p.(Gln280Ter)

Article No results yet Peer reviewed

Key takeaways

This report describes one woman with a rare genetic condition called Fabry disease. Her heart muscle was thickened and scarred. The study identifies a new gene change linked to her condition. It is a single case, so it does not prove a cause for other people.

Who did this work

Fernando Perretta · Eduardo Zurita (Hospital General De Zona) · Marcelo Ortiz · Juan Politei

Source

Article · OpenAlex, Kidney disease concept sweep (verified C2778653478) · 2026-09-28
https://doi.org/10.3389/fmed.2026.1970747