dc.contributor.author | Maestro-Benedicto, Alba | |
dc.contributor.author | Vela, Paula | |
dc.contributor.author | de Frutos, Fernando | |
dc.contributor.author | Mora, Nerea | |
dc.contributor.author | Pomares, Antonia | |
dc.contributor.author | Gonzalez-Vioque, Emiliano | |
dc.contributor.author | Briceño, Ana | |
dc.contributor.author | Cabrera, Eva | |
dc.contributor.author | Cobo-Marcos, Marta | |
dc.contributor.author | Dominguez, Fernando | |
dc.contributor.author | Gonzalez-Lopez, Esther | |
dc.contributor.author | Segovia, Javier | |
dc.contributor.author | Lara-Pezzi, Enrique | |
dc.contributor.author | Garcia-Pavia, Pablo | |
dc.date.accessioned | 2023-03-17T12:36:55Z | |
dc.date.available | 2023-03-17T12:36:55Z | |
dc.date.issued | 2022-12 | |
dc.identifier.citation | Eur J Heart Fail. 2022 Dec;24(12):2367-2373 | es_ES |
dc.identifier.uri | http://hdl.handle.net/20.500.12105/15671 | |
dc.description.abstract | Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild-type transthyretin amyloidosis is the most frequent form of ATTR-CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv) can also occur. We sought to determine the prevalence of ATTRv among elderly ATTR-CM patients, identify predictors of ATTRv and evaluate the clinical consequences of positive genetic testing in this population.
Prevalence of ATTRv in elderly ATTR-CM patients (≥70 years) was assessed in a cohort of 300 consecutive ATTR-CM patients (median age 78 years at diagnosis, 82% ≥70 years, 16% female, 99% Caucasian). ATTRv was diagnosed in 35 (12%; 95% confidence interval [CI] 3.1-8.8) and 13 (5.3%; 95% CI 5.6-26.7) patients in the overall cohort and in those ≥70 years, respectively. Prevalence of ATTRv among elderly female patients with ATTR-CM was 13% (95% CI 2.1-23.5). Univariate analysis identified female sex (odds ratio [OR] 3.66; 95% CI 1.13-11.85; p = 0.03), black ancestry (OR 46.31; 95% CI 3.52-Inf; p = 0.005), eye symptoms (OR 6.64; 95% CI 1.20-36.73; p = 0.03) and polyneuropathy (OR 10.05; 95% CI 3.09-32.64; p < 0.001) as the only factors associated with ATTRv in this population. Diagnosis of ATTRv in elderly ATTR-CM patients allowed initiation of transthyretin-specific drug treatment in 5 individuals, genetic screening in 33 relatives from 13 families, and identification of 9 ATTRv asymptomatic carriers.
Hereditary transthyretin amyloidosis is present in a substantial number of ATTR-CM patients aged ≥70 years. Identification of ATTRv in elderly patients with ATTR-CM has clinical meaningful therapeutic and diagnostic implications. These results support routine genetic testing in patients with ATTR-CM regardless of age. | es_ES |
dc.description.sponsorship | This study has been funded by Instituto de Salud Carlos III (ISCIII)through the projects ‘PI18/0765 & PI20/01379’ (co-funded byEuropean Regional Development Fund/European Social Fund ‘Away to make Europe’/‘Investing in your future’). AMB receives grantsupport by ISCIII (CM20/002209). The CNIC is supported by theISCIII, MCIN, the Pro-CNIC Foundation, and the Severo Ochoagrant (CEX2020-001041-S). | es_ES |
dc.language.iso | eng | es_ES |
dc.publisher | Elsevier | es_ES |
dc.type.hasVersion | VoR | es_ES |
dc.rights.uri | http://creativecommons.org/licenses/by-nc-nd/4.0/ | * |
dc.subject.mesh | Heart Failure | es_ES |
dc.subject.mesh | Cardiomyopathies | es_ES |
dc.subject.mesh | Amyloid Neuropathies, Familial | es_ES |
dc.subject.mesh | Aged | es_ES |
dc.subject.mesh | Humans | es_ES |
dc.subject.mesh | Female | es_ES |
dc.subject.mesh | Male | es_ES |
dc.subject.mesh | Prealbumin | es_ES |
dc.title | Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy. | es_ES |
dc.type | journal article | es_ES |
dc.rights.license | Attribution-NonCommercial-NoDerivatives 4.0 Internacional | * |
dc.identifier.pubmedID | 35999650 | es_ES |
dc.format.volume | 24 | es_ES |
dc.format.number | 12 | es_ES |
dc.format.page | 2367 | es_ES |
dc.identifier.doi | 10.1002/ejhf.2658 | es_ES |
dc.contributor.funder | Instituto de Salud Carlos III | es_ES |
dc.contributor.funder | Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF) | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación (España) | es_ES |
dc.contributor.funder | Fundación ProCNIC | es_ES |
dc.contributor.funder | Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España) | es_ES |
dc.description.peerreviewed | Sí | es_ES |
dc.identifier.e-issn | 1879-0844 | es_ES |
dc.relation.publisherversion | 10.1002/ejhf.2658 | es_ES |
dc.identifier.journal | European journal of heart failure | es_ES |
dc.repisalud.orgCNIC | CNIC::Grupos de investigación::Fisiopatología Cardiovascular Molecular y Genética | es_ES |
dc.repisalud.institucion | CNIC | es_ES |
dc.rights.accessRights | open access | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI18/0765 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/PI20/01379 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CM20/002209 | es_ES |
dc.relation.projectFECYT | info:eu-repo/grantAgreement/ES/CEX2020-001041-S | es_ES |