ArticleBMC cardiovascular disorders2026
Two diseases presenting only as cardiac hypertrophy: differences between the late-onset Fabry disease cardiac variant and hypertrophic cardiomyopathy.
Article in BMC cardiovascular disorders, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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
1 citing paper in PubMed.
- Progressive conduction system disease preceding hypertrophy in IVS4+919G>A Fabry variant: a population-based electrocardiographic study.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2026Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors.
Funding
Abstract
backgroundCardiac involvement is the leading cause of death in Fabry disease (FD), but the “cardiac variant” is often misdiagnosed as hypertrophic cardiomyopathy (HCM). This study systematically compared late-onset FD cardiac variant and HCM across clinical, electrocardiographic (ECG), echocardiographic and cardiac magnetic resonance (CMR) features to improve diagnostic accuracy.
methodsThe clinical data, ECG, echocardiography, CMR (performed in 22 FD patients and 43 HCM patients), α-galactosidase A (α-Gal A) activity and globotriaosylsphingosine (Lyso-GL-3) levels of 30 proband patients with late-onset FD cardiac variant and 43 HCM patients, enrolled in Fujian, China from May 2022 to March 2024, were retrospectively analyzed.
resultsAmong the FD patients, 96.7% carried the IVS4 + 919G > A mutation. ECG further revealed a significantly higher proportion of bundle branch block (BBB) (P = 0.003), prolonged P-wave duration (P = 0.043) and prolonged QRS duration (P = 0.002) in the FD patients. In addition, echocardiography showed greater left ventricular posterior wall thickness (LVPWT) (P < 0.001), higher relative wall thickness (RWT) (P < 0.001), lower left ventricular wall asymmetry (LVWa) ( P = 0.012) as well as a higher prevalence of concentric left ventricular hypertrophy (LVH) in FD patients compared with HCM ones (P = 0.005). Finally, CMR showed that late-onset FD cardiac variants had a higher proportion of late-gadolinium enhancement (LGE) in the basal inferolateral wall (P = 0.005), along with significantly lower native global T1 values (P < 0.001) and midventricular septal T1 values (P < 0.001) compared with both HCM patients and normal controls. Overall, 31.8% (7/22) of FD patients were classified as being in the late stage.
conclusionIn Fujian, China, late-onset FD cardiac variant was found to be predominantly characterized by the IVS4 + 919G > A mutation, with most patients presenting in the late stage. In clinical practice, the presence of unexplained concentric, symmetric LVH, together with P-QRS interval prolongation or BBB and/or reduced T1 values, should prompt screening for late-onset FD cardiac variant to avoid misdiagnosis as HCM.
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.