Evidence map›Paper›PMID 37201153›Full record

ArticleEuropean heart journal. Case reports2023

Fabry disease due to D313Y variant with renal failure and possible cardiac involvement: a case report.

Evangelia Bei, Alexios S Antonopoulos, Georgios Tsivgoulis, Charalambos Vlachopoulos

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in European heart journal. Case reports, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.5field-weighted citation impact, top 35% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. Potential Pathogenetic Role of the D313Y Mutation in theInternational journal of molecular sciences · 2025
    Article
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors at 1 institution in 1 country.

Evangelia BeiUnit of Inherited Cardiac and Rare Diseases, First Department of Cardiology, National and Kapodistrian University of Athens, 114 Vas. Sofias Avenue, 11527 Athens, Greece.ORCID https://orcid.org/0000-0003-2375-3948
Alexios S AntonopoulosUnit of Inherited Cardiac and Rare Diseases, First Department of Cardiology, National and Kapodistrian University of Athens, 114 Vas. Sofias Avenue, 11527 Athens, Greece.ORCID https://orcid.org/0000-0001-9137-0143
Georgios TsivgoulisSecond Department of Neurology, Attikon General Hospital, National and Kapodistrian University of Athens, 1 Rimini st, 12462 Haidari, Greece.
Charalambos VlachopoulosUnit of Inherited Cardiac and Rare Diseases, First Department of Cardiology, National and Kapodistrian University of Athens, 114 Vas. Sofias Avenue, 11527 Athens, Greece.ORCID https://orcid.org/0000-0002-9904-3558
National and Kapodistrian University of Athens · GR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: This is a case report of a patient with Anderson-Fabry disease (AFD) due to the D313Y variant on the a-galactosidase A ( Case summary: A 53-year-old man with chronic kidney disease due to AFD and a medical history of revascularized coronary artery disease, chronic atrial fibrillation, and arterial hypertension was referred to our unit for evaluation of possible cardiac involvement in the context of AFD. Biochemical evaluation reported reduced serum alpha-galactosidase A activity and borderline abnormal serum lyso-Gb Discussion: This is the first case of possible cardiac involvement in a patient with AFD due to the D313Y variant. This case demonstrates the diagnostic challenges of cardiac involvement in AFD, especially in the presence of a concomitant underlying pathology.

Indexed as

Case reportD313Y mutationFabry diseaseMyocardial involvement

Identifiers

PMID37201153
PMCPMC10187784
OpenAlexW4367555415

What OpenQuestion holds

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LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.