ReviewGenetics in medicine : official journal of the American College of Medical Genetics2017
Transthyretin V122I (pV142I)* cardiac amyloidosis: an age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans.
Review in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 87 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
87 citing papers in PubMed, 2 syntheses or guidelines pooled it, 174 citations in OpenAlex.
- Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Human genomics · 2024Pooled it
- Genetic evaluation of cardiomyopathy: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2018Guideline
- Monoclonal gammopathy of undetermined significance in systemic transthyretin amyloidosis (ATTR).Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2018Trial
- Sex Differences in a Contemporary, Real-World Cohort of Patients with Transthyretin Amyloid Cardiomyopathy Treated with Tafamidis.Cardiology and therapy · 2026Article
- Polyneuropathy Assessment and Treatment Patterns in Patients with Hereditary Transthyretin Amyloidosis.Cardiology and therapy · 2026Article
- Temporal Trends in Incidence and Prevalence of Transthyretin Amyloid Cardiomyopathy in the United States.Journal of the American Heart Association · 2026Article
- Development of Human iPSC-based Microphysiogical Models of Transthyretin Amyloid Cardiomyopathy.Research square · 2026Article
- Transthyretin V122I variant and protein affect cardiac severity and mortality in sickle cell disease.Blood advances · 2026Observational
- Specification of frequency criteria for secondary findings genes to improve variant classification concordance.Genetics in medicine : official journal of the American College of Medical Genetics · 2026Article
- Identifying Subclinical Transthyretin Cardiac Amyloidosis in V142I TTR Carriers: Design, Rationale, and Methods of the VISTA (Variant Imaging of Subclinical Transthyretin Amyloidosis) Study.The American journal of cardiology · 2026Article
- Polarimetric imaging of collagen in histopathology specimens: an investigation of congo red and picrosirius red-stained placenta and skin.Scientific reports · 2026Article
- Article
- Utilization rates and determinants of PYP and CMR among patients with unexplained left ventricular hypertrophy on echocardiography.International journal of cardiology · 2025Article
- In vitro and in vivo disease models of cardiac amyloidosis: progress, pitfalls, and potential.Cardiovascular research · 2025Review
- Transthyretin Cardiac Amyloidosis in Older Black and Hispanic Individuals With Heart Failure.JAMA cardiology · 2025Article
- A mutation in transthyretin gene in a Mexican patient leading to hereditary amyloidosis: a case report.Journal of medical case reports · 2025Article
- Prevalence and Phenotype of Transthyretin Val122Ile Variant in the Hispanic Community Health Study/Study of Latinos.JACC. Advances · 2025Article
- Uncovering cell type-specific phenotypes using a novel human in vitro model of transthyretin amyloid cardiomyopathy.Stem cell research & therapy · 2025Article
- Real-World Characteristics and Treatment Patterns of Patients With Transthyretin Amyloid Cardiomyopathy: Protocol for a Multicountry Disease Registry Study.JMIR research protocols · 2025Article
- Hereditary Transthyretin Cardiac Amyloidosis With the p.V142I Variant: Mechanistic Insights and Diagnostic Challenges.Circulation. Heart failure · 2025Review
27 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America. At autopsy, the allele was found to be associated with cardiac TTR amyloid deposition in all the carriers after age 65 years; however, the clinical penetrance varies, resulting in substantial heart disease in some carriers and few symptoms in others. The allele has been found in 10% of African Americans older than age 65 with severe congestive heart failure. At this time there are potential forms of therapy in clinical trials. The combination of a highly accurate genetic test and the potential for specific therapy demands a greater awareness of this autosomal dominant, age-dependent cardiac disease in the cardiology community.Genet Med advance online publication 19 January 2017.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.