First description of Portuguese patients with cardiac amyloidosis and p.Val142Ile: more evidence of an "African variant" in Caucasians

Conclusions. Our findings add to the mounting evidence that the global prevalence of p.Val142Ile is likely understated. This highlights the importance of the systematic screening of the TTR gene in amyloidosis and phenocopies, as well as larger epidemiologic studies to determine the true ATTRv p.Val142Ile prevalence in non-African communities.PMID:37029471 | DOI:10.1080/14017431.2023.2197183

Source: Scandinavian Cardiovascular Journal - April 8, 2023 Category: Cardiology Authors: Catarina Martins da Costa Ana Filipa Amador Jo ão Calvão Alice Vasconcelos Porto Susana Fernandes Elisabete Martins Filipe Macedo Source Type: research