ArticleJournal of the American Heart Association2023
Clinical Penetrance of the Transthyretin V122I Variant in Older Black Patients With Heart Failure: The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) Study.
Article in Journal of the American Heart Association, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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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
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Prevalence of cardiac amyloidosis in screening studies: a systematic review and meta-analysis.ESC heart failure · 2026Pooled it
- Transthyretin Cardiac Amyloidosis in a Safety-Net Hospital: A Case Series of 10 Afro-Caribbean Patients.JACC. Case reports · 2026Article
- Transthyretin Amyloid Cardiomyopathy in Women: Epidemiology, Diagnostic Delay, and Clinical Implications.Cardiology and therapy · 2026Review
- Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy.Heart failure reviews · 2026Review
- Transthyretin Amyloidosis-From Peculiar Neuropathy to a Treatable Chronic Multisystemic Disease.Genes · 2026Review
- Differential Transthyretin Stabilization in Patients With Wild Type and Variant Transthyretin Amyloidosis.JACC. CardioOncology · 2026Article
- Global Burden of Cardiac Amyloidosis in Heart Failure: A Systematic Review and Meta-Analysis.Research square · 2026Article
- Unravelling the myriad physiologic roles of transthyretin: critical considerations for treating transthyretin amyloidosis.Annals of medicine · 2025Review
- Transthyretin cardiac amyloidosis: advances and ambiguities.Heart failure reviews · 2025Review
- Genome sequencing of 35,024 predominantly African ancestry persons addresses gaps in genomics and healthcare.medRxiv : the preprint server for health sciences · 2025Article
- Effectiveness and Utility of Genetic Testing in Establishing a Diagnosis of Hereditary Transthyretin Amyloidosis.Journal of clinical medicine · 2025Article
- Risk for Heart Failure and Atrial Fibrillation Across the Lifespan for Carriers of the Amyloidogenic p.V142ICirculation. Genomic and precision medicine · 2025Article
- Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos.JACC. Advances · 2025Article
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
- Biomarkers in Subclinical Transthyretin Cardiac Amyloidosis.Current heart failure reports · 2025Review
- Should We Systematically Screen for the Amyloidogenic V142I Variant?Journal of cardiac failure · 2025Article
- Cardiovascular Risk Factors and Genetic Risk in Transthyretin V142I Carriers.JACC. Heart failure · 2025Article
- Unlocking Diversity in Cardiovascular Clinical Research: Lessons from the Screening for Cardiac Amyloidosis With Nuclear Imaging in a Minority Populations Study.Journal of cardiac failure · 2024Article
- Navigating the penetrance and phenotypic spectrum of inherited cardiomyopathies.Heart failure reviews · 2024Review
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Authors and funding
17 authors at 5 institutions in 1 country.
Funding
Abstract
Background Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed cause of heart failure (HF) among patients ≥60 years of age. Although the V122I (valine to isoleucine substitution at position 122 of the transthyretin protein) variant associated with hereditary ATTR-CM is present in 3.4% of self-identified Black individuals in the United States (or 1.5 million people), the phenotypic penetrance is not known. Methods and Results The SCAN-MP (Screening for Cardiac Amyloidosis With Nuclear Imaging in Minority Populations) study is a currently accruing prospective multisite study designed to determine the prevalence of ATTR-CM using technetium-99m-pyrophosphate imaging in older (≥60 years of age) self-identified Black and Hispanic individuals with HF. Calculations of the penetrance and prevalence of the V122I allele, along with analyses of functional, biochemical, and echocardiographic parameters, were performed for the first 278 Black participants in SCAN-MP. The prevalence of ATTR-CM was 6.8% (95% CI, 4.2-10.5; n=19 cases), of whom 63% were ATTR wild-type. The prevalence of V122I was 6.5% (n=18 carriers), of whom 7 had ATTR-CM, yielding a phenotypic penetrance of 39% (95% CI, 17-64). V122I carriers with ATTR-CM evidenced more advanced HF than carriers without ATTR-CM. Prealbumin concentration was lowest among V122I carriers with ATTR-CM (12.9 mg/dL) versus carriers without ATTR-CM (21.0 mg/dL) and HF controls (25.0 mg/dL,
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.