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Página principal > Artículos > Artículos publicados > Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy |
Fecha: | 2022 |
Resumen: | 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. |
Ayudas: | Instituto de Salud Carlos III PI20/01379 Instituto de Salud Carlos III PI18/0765 Instituto de Salud Carlos III CM20/002209 Agencia Estatal de Investigación CEX2020-001041-S |
Derechos: | Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, sempre que no sigui amb finalitats comercials, i sempre que es reconegui l'autoria de l'obra original. |
Lengua: | Anglès |
Documento: | Informe ; recerca ; Versió publicada |
Materia: | Age ; Amyloidosis ; Elderly ; Genetic testing ; Transthyretin |
Publicado en: | European Journal of Heart Failure, Vol. 24 (september 2022) , p. 2367-2373, ISSN 1879-0844 |
7 p, 704.4 KB |