ArticleHeart (British Cardiac Society)2020
Cardiomyopathy associated with the Ala143Thr variant of the
Article in Heart (British Cardiac Society), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 33 citations in OpenAlex.
- Cardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease.Medeniyet medical journal · 2026Article
- Targeted questionnaires improve detection of early gastrointestinal symptoms in young children with Fabry disease.Orphanet journal of rare diseases · 2026Article
- Clinical and Biochemical Characterization of Fabry Disease Associated GLA Gene Variants: Data From a Large Cohort of 469 Thousand Genotyped Subjects of the UK Biobank Database.Journal of inherited metabolic disease · 2025Article
- Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland.ESC heart failure · 2025Article
- Article
- GLA insufficiency should not be called Fabry disease.European journal of human genetics : EJHG · 2025Article
- Septal Myectomy in Patients with Hypertrophic Cardiomyopathy and Nonclassical Anderson-Fabry Disease.Journal of cardiovascular development and disease · 2024Article
- Clinical staging of Anderson-Fabry cardiomyopathy: An operative proposal.Heart failure reviews · 2024Review
- Article
- Case report: First diagnosis of Fabry disease in North Macedonia in a patient presenting with kidney failure on hemodialysis.Frontiers in genetics · 2024Article
- Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain.Scientific reports · 2023Article
- Late-onset and classic phenotypes of Fabry disease in males with theOpen heart · 2023Article
- Anderson-Fabry disease cardiomyopathy: an update on epidemiology, diagnostic approach, management and monitoring strategies.Frontiers in cardiovascular medicine · 2023Review
- The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology.Orphanet journal of rare diseases · 2022Article
- Diagnostic Yield of Genetic Testing in Young Patients With Atrioventricular Block of Unknown Cause.Journal of the American Heart Association · 2022Article
- Fabry Disease: A Atypical Presentation.Cureus · 2021Article
- Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy.Molecular genetics and metabolism reports · 2020Article
- Genetic and phenotypic profile of Fabry disease in the population of Vale do Paraiba and Eastern São Paulo.Jornal brasileiro de nefrologiaObservational
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate whether the Ala143Thr variant of the
methodsThe index patient, a woman in her 60s with cardiomyopathy, was screened for variants in 59 cardiomyopathy-related genes. A143T/
resultsThe index patient and her elder son had a pacemaker implantation because of sick sinus syndrome and atrioventricular block. GLA activities were decreased to 25%-40% of normal in both sons and one granddaughter. Lyso-Gb3 levels were elevated in both sons. In CMR, the index patient and her two sons had left ventricular (LV) hypertrophy and/or dilatation. The elder son had late gadolinium enhancement, high CMR-derived T1 time and positive FDG signal in PET/CT in the basal inferolateral LV wall. The younger son had low T1 time and the mother had positive FDG signal in PET/CT in the basal inferolateral LV wall. Endomyocardial biopsy of both sons showed myocardial accumulation compatible with glycolipids in light and electron microscopy, staining with anti-Gb3 antibody available for the younger son. Five female relatives with A143T/
conclusionsA143T/
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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.