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Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS

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dc.contributor.author Gentile, Luca
dc.contributor.author Tournev, Ivailo
dc.contributor.author Amass, Leslie
dc.contributor.author Chapman, Doug
dc.contributor.author Mazzeo, Anna
dc.contributor.author THAOS investigators
dc.contributor.other Barroso, Fabio Adrián
dc.date.accessioned 2021-07-14T14:03:09Z
dc.date.available 2021-07-14T14:03:09Z
dc.date.issued 2021-06-19
dc.identifier.citation 24. Gentile L, Tournev I, Amass L, Chapman D, Mazzeo A; THAOS investigators. Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS. Cardiol Ther. 2021 Jun 19. doi: 10.1007/s40119-021-00226-6 es_ES
dc.identifier.uri https://doi.org/10.1007/s40119-021-00226-6
dc.identifier.uri https://repositorio.fleni.org.ar/xmlui/handle/123456789/511
dc.description.abstract Introduction Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, clinically heterogeneous disease with spontaneous (wild-type) and hereditary (ATTRv) forms. The Glu89Gln variant is primarily associated with cardiomyopathy and prevalent in Italy and Bulgaria. The objective of this analysis was to better understand the profile of patients with ATTRv Glu89Gln amyloidosis in the Transthyretin Amyloidosis Outcomes Survey (THAOS). Methods THAOS is an ongoing, global, longitudinal, observational survey of patients with ATTR amyloidosis, including both inherited and wild-type disease, and asymptomatic carriers with mutations in the transthyretin gene. Demographic and clinical characteristics of all symptomatic patients with the ATTRv Glu89Gln variant enrolled in THAOS are described (data cutoff, January 6, 2020). Results There were 91 patients with ATTRv Glu89Gln amyloidosis with the majority from Bulgaria (n = 53) or Italy (n = 29). All patients were Caucasian and 50.5% were male. Patients from Bulgaria had a mean (standard deviation) age at enrollment of 57.1 (8.2) years, and duration of symptoms of 8.6 (9.6) years, compared with 54.8 (8.6) and 5.0 (4.1) years in Italy. In Bulgaria, 39.6% of patients were of a predominantly cardiac phenotype, 18.9% predominantly neurologic, and 41.5% mixed. In Italy, 3.4% of patients were predominantly cardiac, 62.1% predominantly neurologic, and 34.5% mixed. Conclusions The majority of patients with ATTRv Glu89Gln amyloidosis in THAOS are from Bulgaria or Italy. There were notable phenotypic differences, with the cardiac phenotype more common in Bulgaria and the neurologic phenotype more common in Italy. Over one-third of patients had a mixed phenotype, suggesting a potential role of multiple genetic and/or environmental factors and the need for comprehensive assessment of all patients. es_ES
dc.language.iso eng es_ES
dc.publisher Springer es_ES
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Prealbumin es_ES
dc.subject Prealbúmina es_ES
dc.subject Bulgaria es_ES
dc.subject Italy es_ES
dc.subject Italia es_ES
dc.title Phenotypic Differences of Glu89Gln Genotype in ATTR Amyloidosis From Endemic Loci: Update From THAOS es_ES
dc.type info:eu-repo/semantics/article es_ES
dc.type info:eu-repo/semantics/publishedVersion
dc.description.fil Fil: Gentile, Luca. University of Messina; Italia.
dc.description.fil Fil: Tournev, Ivailo. Sofia Medical University; Bulgario.
dc.description.fil Fil: Amass, Leslie. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Chapman, Doug. Pfizer Inc.; Estados Unidos.
dc.description.fil Fil: Mazzeo, Anna. Department of Clinical and Experimental Medicine; Italia.
dc.description.fil Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología. Sección de Enfermedades Neuromusculares; Argentina.
dc.relation.ispartofCOUNTRY Reino Unido
dc.relation.ispartofCITY Londres
dc.relation.ispartofTITLE Cardiology and therapy
dc.relation.ispartofISSN 2193-6544
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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