ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Low frequency of Fabry disease in patients with common heart disease.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- A New Class of Pathogenic Non-Coding Variants in GLA.International journal of molecular sciences · 2026Article
- Phenotypic Evolution in Fabry Disease: Our Experience in Indian Cohort.Indian journal of clinical biochemistry : IJCB · 2025Article
- Effects of aerobic exercise on myocardial injury, NF-B expression, glucolipid metabolism and inflammatory factors in rats with coronary heart disease.Clinics (Sao Paulo, Brazil) · 2024Article
- Advances in genetic diagnosis and therapy of hereditary heart disease: a bibliometric review from 2004 to 2024.Frontiers in medicine · 2024Review
- 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
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- Mono-symptomatic Fabry disease in a population with mild-to-moderate left ventricular hypertrophy.Molecular genetics and metabolism reports · 2020Article
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Authors and funding
9 authors.
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Abstract
purposeTo test the hypothesis that undiagnosed patients with Fabry disease exist among patients affected by common heart disease.
methodsGlobotriaosylceramide in random whole urine using tandem mass spectroscopy, α-galactosidase A activity in dried blood spots, and next-generation sequencing of pooled or individual genomic DNA samples supplemented by Sanger sequencing.
resultsWe tested 2,256 consecutive patients: 852 women (median age 65 years (19-95)) and 1,404 men (median age 65 years (21-92)). The primary diagnoses were coronary artery disease (n = 994), arrhythmia (n = 607), cardiomyopathy (n = 138), and valvular disease (n = 568). Urinary globotriaosylceramide was elevated in 15% of patients and 15 males had low α-galactosidase A activity. GLA variants found included R118C (n = 2), D83N, and D313Y (n = 7); IVS6-22 C>T, IVS4-16 A>G, IVS2+990C>A, 5'UTR-10 C>T (n = 4), IVS1-581 C>T, IVS1-1238 G>A, 5'UTR-30 G>A, IVS2+590C>T, IVS0-12 G>A, IVS4+68A>G, IVS0-10 C>T, IVS2-81-77delCAGCC, IVS2-77delC. Although the pathogenicity of several of these missense mutations and complex intronic haplotypes has been controversial, none of the patients screened in this study were diagnosed definitively with Fabry disease.
conclusionThis population of patients with common heart disease did not contain a substantial number of patients with undiagnosed Fabry disease. GLA gene sequencing is superior to urinary globotriaosylceramide or α-galactosidase A activity in the screening for Fabry disease.
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