ArticleJournal of the American Heart Association2024
Hereditary Transthyretin Amyloidosis in Patients Referred to a Genetic Testing Program.
Article in Journal of the American Heart Association, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed.
- Cardiac Amyloidosis: Pathogenesis, Diagnosis, and Treatment.Deutsches Arzteblatt international · 2026Review
- Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy.Heart failure reviews · 2026Review
- Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort.Journal of clinical medicine · 2026Article
- Genetic testing and evidence of a founder mutation in a hotspot for hereditary transthyretin amyloidosis.Scientific reports · 2025Article
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
- Present and future of endomyocardial biopsy in cardiac amyloidosis.European heart journal supplements : journal of the European Society of Cardiology · 2025Article
- Improving Health Equity Through Standardization and Selective Expansion of Genetic Testing in Transthyretin Amyloidosis.Journal of the American Heart Association · 2024Article
- A review of Eplontersen use in hereditary transthyretin amyloidosis.Neurodegenerative disease managementReview
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDiagnosis of hereditary amyloid transthyretin (hATTR) amyloidosis with cardiomyopathy is frequently delayed, in large part because of symptom overlap with other cardiovascular diseases and limited provider knowledge of this disease. The sponsored and provider referred hATTR Compass Genetic Testing Program (Ionis, Carlsbad, CA; Ambry Genetics, Aliso Viejo, CA) provided no-cost genetic testing to adults with a family history or clinical suspicion of hATTR amyloidosis. This study aims to characterize patients with hATTR amyloidosis and increase awareness of genetic testing for hATTR. METHODS AND
resultsPatients were referred to the hATTR genetic testing program, and a cross-sectional post hoc analysis was performed. A pathogenic
conclusionsThis sponsored genetic testing program identified a large number of patients with a pathogenic
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