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dc.contributor.authorMaestro-Benedicto, Alba
dc.contributor.authorVela, Paula
dc.contributor.authorde Frutos, Fernando
dc.contributor.authorMora, Nerea
dc.contributor.authorPomares, Antonia
dc.contributor.authorGonzalez-Vioque, Emiliano
dc.contributor.authorBriceño, Ana
dc.contributor.authorCabrera, Eva
dc.contributor.authorCobo-Marcos, Marta
dc.contributor.authorDominguez, Fernando
dc.contributor.authorGonzalez-Lopez, Esther
dc.contributor.authorSegovia, Javier
dc.contributor.authorLara-Pezzi, Enrique
dc.contributor.authorGarcía Pavía, Pablo
dc.description.abstractAims 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. Methods and results 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. Conclusions 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
dc.publisherEuropean Journal of Heart Failurespa
dc.rightsAtribución-NoComercial-SinDerivadas 3.0 España*
dc.subjectGenetic testingspa
dc.titleFrequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin
dc.description.extent682 KBspa

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Atribución-NoComercial-SinDerivadas 3.0 España
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