ArticleEuropean heart journal2026
Cascade genetic screening in families with hereditary transthyretin amyloidosis: diagnostic and prognostic impact.
Article in European heart journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.
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Who cites it
3 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Vutrisiran in transthyretin amyloid cardiomyopathy: a structured review of the HELIOS-B trial and its secondary analyses.BMC cardiovascular disorders · 2026Pooled it
- Diagnosing Transthyretin Cardiac Amyloidosis in Japan: Lessons From J-COSSA on Access, Equity, and Earlier Detection.JACC. Asia · 2026Article
- Identifying implementation strategies to increase the early detection of cardiac amyloidosis: a pre-implementation study.Frontiers in cardiovascular medicine · 2026Article
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44 authors.
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Abstract
BACKGROUND AND
aimsHereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disease with variable penetrance. Cascade genetic screening may enable earlier diagnosis and intervention, but its prognostic impact remains unclear.
methodsThis study retrospectively analysed 967 individuals from 431 families between 2004 and 2024 across 15 Italian referral centres. Participants were categorized as ATTRv index cases, symptomatic carriers (genotype-positive/phenotype-positive [G+/P+]), or asymptomatic carriers (genotype-positive/phenotype-negative [G+/P-]). Clinical characteristics, disease conversion, and survival were evaluated.
resultsFollowing identification of 398 index cases, genetic screening of 1243 relatives identified 569 carriers (461 G+/P-, 108 G+/P+). Among the 461 G+/P-, over a median follow-up of 5.3 [1.7-9.8] years, 77 (16.7%) patients developed a clinical diagnosis of ATTRv: Glu89Gln (42.2%, 95% confidence interval [CI] 28.8-56.9), Phe64Leu (24.7%, 95% CI 16.1-35.8), Val30Met (13.1%, 95% CI 7.4-22.1), Ile68Leu (7.3%, 95% CI 4.1-12.8), and Val122Ile (5.1%, 95% CI 1.3-18.3), other variants 22.9% (95% CI 14.5-34.1). Notably, 11/62 (17.7%) carriers converted >10 years earlier than the predicted age of disease onset. G + P+ patients had better survival than index (hazard ratio [HR] 0.43, 95% CI 0.24-0.79), and mixed phenotype showed worse outcomes than cardiac presentations. Disease-modifying therapy was independently associated with lower mortality (HR 0.11, 95% CI 0.01-0.17).
conclusionsCascade genetic screening facilitated earlier diagnosis and was associated with improved survival, likely related to identification at an earlier stage of disease and timely treatment initiation. Variant-specific follow-up is essential, as some carriers convert earlier than predicted. Systematic, genotype-informed surveillance in ATTRv is key to optimize outcomes.
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