The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640–801G > A) from hypertrophic cardiomyopathy: a case-control study

Q: What are the key findings of this study?

Cardiovascular magnetic resonance imaging effectively discriminated late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy, with lower septal native T1 values demonstrating an AUC of 0.968.

Q: What is the clinical evidence from this study?

Study design: Case-Control. Population: Anderson-Fabry disease (c.640-801G>A mutation) (n=90). Intervention: Anderson-Fabry disease (c.640-801G>A mutation) vs. Hypertrophic cardiomyopathy (HCM). Primary outcome: Septal native T1 values for discrimination between AFD and HCM (AUC 0.968, 95% CI 0.886-0.996, p=<0.001).

Q: What does this research mean for the field?

Cardiovascular magnetic resonance imaging distinguishes late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy via lower native septal T1 values, higher prevalence of basal inferolateral late gadolinium enhancement, and more symmetric left ventricular hypertrophy. Novelty: ClaimNovelty.INCREMENTAL. Consensus alignment: ConsensusAlignment.NEUTRAL.

YiLin Xu; Rui Chen; Xinglu Li; Huihua Lin; Lirong Lin; Lihong Lu; XiaoMin Dai; Yingbin Yu; YuYing Lin; Lei Yin; Mingping Ma

doi:10.1016/j.ijcha.2026.101869

January 18, 2026IJC Heart & VasculatureOpen Access

The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640–801G > A) from hypertrophic cardiomyopathy: a case-control study

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Key result

CMR native T1 mapping reliably distinguishes late-onset Fabry disease from HCM with ~0.97 AUC.

AUC 0.968
95% CI 0.886-0.996
P<0.001
n=90

Figures

Why the study?

The utility of cardiovascular magnetic resonance imaging in distinguishing Anderson-Fabry disease harboring the c.640-801G > A mutation from hypertrophic cardiomyopathy needed evaluation.

Does quantitative cardiovascular MRI (specifically native T1 mapping and LGE patterns) differentiate late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy?

Study Design

Type

Case-Control (n=90)

Blinding

Single-blind

Multicenter

No

Structured PICO

Does quantitative cardiovascular MRI (specifically native T1 mapping and LGE patterns) differentiate late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy?

P

Population

90 subjects including 30 adults with genetically confirmed late-onset Anderson-Fabry disease (c.640-801G>A mutation), 30 matched patients with hypertrophic cardiomyopathy, and 30 matched healthy controls.

E

Exposure

Cardiovascular magnetic resonance imaging (CMR) at 3.0 T, including modified Look-Locker inversion recovery (MOLLI) for native T1 mapping and phase-sensitive inversion-recovery gradient-echo (PSIR-GRE) for late gadolinium enhancement (LGE) imaging.

C

Comparator

CMR imaging findings in the disease comparator group (hypertrophic cardiomyopathy) and healthy controls.

O

Outcome

Discriminatory capacity of septal native T1, global native T1, and LGE region native T1 values for differentiating AFD from HCM, assessed via area under the receiver operating characteristic curve (AUC).surrogate

Main Result

Effect estimate: AUC 0.968 (95% CI 0.886-0.996)

Absolute Event Rate: 1197% vs 1306%

p-value: p=<0.001

Quantitative CMR, particularly lower septal native T1 values and basal inferolateral LGE, provides excellent accuracy in differentiating late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy.

Limitations

Single-center retrospective investigation with limited sample size.
Potential for type II statistical error in subgroup analyses of sex differences.
Possibility of residual confounding despite frequency matching.
Absence of a control group without the specific mutation to verify genotype-specific effects.
Lack of CMR data from early cardiac involvement.
Imaging was performed using a single MRI scanner model and specific T1 mapping sequence without external validation.
Moderate intra- and inter-observer agreement for native T1 measurements within LGE-positive regions.
Lack of ECV quantification and T2 mapping.
Retrospective study design
Single-center study with MRI scanner- and sequence-specific cut-off values requiring independent external validation
Limited sample size, particularly the low number of female AFD patients

Implication

Septal native T1 on CMR may aid differentiation of late-onset AFD from HCM; leaves open prospective validation before clinical adoption.

Abstract

Aims: To evaluate the utility of cardiovascular magnetic resonance imaging (CMR) in distinguishing Anderson-Fabry disease (AFD) harboring the c.640-801G > A mutation from hypertrophic cardiomyopathy (HCM). Methods and results: We enrolled 30 AFD patients, 30 age- and sex-matched HCM patients, and 30 healthy controls (HC). All participants underwent CMR (3.0 T). Left ventricular hypertrophy (LVH) prevalence was high in both AFD and HCM groups (P = 0.12). AFD patients exhibited significantly greater left ventricular lateral wall thickness compared to both HCM and HC (P < 0.001), and a significantly lower interventricular septal to lateral wall thickness ratio (IVS/LW) than HCM (P < 0.001). Late gadolinium enhancement (LGE) was significantly more frequent in the basal inferolateral and apical segments in AFD compared to HCM (P < 0.001 and P = 0.039, respectively). Native T1 values were significantly lower in AFD than HCM in the global LV, septal LV, and within LGE regions (all P < 0.001). Compared to HC, AFD patients had significantly lower septal native T1 (P < 0.001), but comparable global LV native T1 (P = 0.155). Native T1 cut-offs effectively discriminated AFD from HCM: septal native T1 ≤ 1247 ms, global native T1 ≤ 1256 ms, and LGE region native T1 ≤ 1334 ms. Septal native T1 demonstrated the strongest discriminatory capacity. Conclusion: CMR effectively differentiates AFD patients with the c.640-801G > A mutation from HCM. Key discriminators include lower native T1 values (Caution against pseudo-normalization), higher prevalence of basal inferolateral LGE, and more symmetric LVH in AFD.

Discussion

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Cite This Study

Xu et al. (2026) conducted a case-control in Anderson-Fabry disease (c.640-801G>A mutation) (n=90). Anderson-Fabry disease (c.640-801G>A mutation) vs. Hypertrophic cardiomyopathy (HCM) was evaluated on Septal native T1 values for discrimination between AFD and HCM (AUC 0.968, 95% CI 0.886-0.996, p=<0.001). Cardiovascular magnetic resonance imaging effectively discriminated late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy, with lower septal native T1 values demonstrating an AUC of 0.968.

synapsesocial.com/papers/6a08950a113ba5b476de4c7d https://doi.org/10.1016/j.ijcha.2026.101869

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The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640–801G > A) from hypertrophic cardiomyopathy: a case-control study

Figures

Study Design

Structured PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

The role of quantitative cardiovascular MRI and late gadolinium enhancement patterns in differentiating late-onset Anderson-Fabry disease (c.640–801G > A) from hypertrophic cardiomyopathy: a case-control study

Figures

Study Design

Structured PICO

Main Result

Limitations

Implication

Abstract

Discussion

Cite This Study

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