Article
Global longitudinal strain in pre-symptomatic patients with mutation for transthyretin amyloidosis.
Orphanet journal of rare diseases - 5 Dec 2024
Canciello Grazia, Tozza Stefano, Todde Gaetano, Nolano Maria, Borrelli Felice, Palumbo Giovanni, Lombardi Raffaella, Cassano Emanuele, Acampa Wanda, Esposito Giovanni, Manganelli Fiore, Losi Maria Angela
Abstract excerpt
BACKGROUND: Hereditary transthyretin (ATTRv) amyloidosis is rare, autosomal dominant disease with a fatal outcome if left untreated. Early stages detection is crucial for intervention. We aimed identifying early indexes of cardiac involvement and their eventual correlation with neurological indexes, in pre-symptomatic subjects with TTR gene mutation. METHODS: Sixteen TTR-mutation carriers (mean age 51 ± 9 years,...
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