ArticleAnatolian journal of cardiology2020
Ratio of Fabry disease in patients with idiopathic left ventricular hypertrophy: A single-center study in Turkey.
Article in Anatolian journal of cardiology, 2020. 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
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
8 citing papers in PubMed, 12 citations in OpenAlex.
- A composite measurement concept for monitoring cardiac function in Fabry disease.Orphanet journal of rare diseases · 2025Article
- The Asian Fabry Cardiomyopathy High-Risk Screening Study 2 (ASIAN-FAME-2): Prevalence of Fabry Disease in Patients with Left Ventricular Hypertrophy.Journal of clinical medicine · 2024Article
- The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.Anatolian journal of cardiology · 2023Article
- Prevalence of Fabry Disease in patients with left ventricular hypertrophy in Turkey: Multicenter study (LVH-TR subgroup analysis).The international journal of cardiovascular imaging · 2023Observational
- The Frequency of Fabry Disease in Patients with Cardiac Hypertrophy of Various Phenotypes Including Prominent Papillary Muscle: The TUCARFAB Study in Turkey.Anatolian journal of cardiology · 2023Observational
- p.R220L Is a Likely Pathogenic Novel GLA Gene Mutation Responsible for Fabry Disease.Anatolian journal of cardiology · 2022Article
- High-Risk Screening for Fabry Disease: A Nationwide Study in Japan and Literature Review.Diagnostics (Basel, Switzerland) · 2021Review
- The benefits and challenges of family genetic testing in rare genetic diseases-lessons from Fabry disease.Molecular genetics & genomic medicine · 2021Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveFabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism which arises due to deficient or absent activity of lysosomal α-galactosidase A (α-Gal A). This may be associated with increased left ventricular (LV) wall thickness and may mimic the morphological features of hypertrophic cardiomyopathy. The purpose of this study was to define the ratio of occurrence of FD to the manifestation of unexplained left ventricular hypertrophy (LVH).
methodsWe studied a prospectively assembled a consecutive cohort of 190 patients with unexplained LVH on echocardiography. The criterion for LVH diagnosis was a maximum LV wall thickness of 13 mm or greater. All patients were tested for mutations in the GLA gene.
resultsThe majority of patients were male (n=119, 63%) and the mean patient age was 47.2±115 years. In 190 patients diagnosed with LVH, we identified 2 patients (1.05%) with documented GLA mutations [c.427G>A (p.A143T)(p.Ala143Thr)] and [c.937G>T (p.D313Y)(p.Asp313Tyr)]. After the family screening, 3 additional patients with FD were identified in 2 families, including 5 individuals who are now receiving enzyme replacement therapy.
conclusionWe identified 2 index patients with FD and unexplained LVH. Cardiologists should, therefore, be aware of FD in cases of unexplained LVH. Family screening is crucial for the earlier identification of unaffected new patients who may benefit from enzyme replacement therapy.
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.