PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
January 18, 2026IJC Heart & Vasculature0 citationsOpen 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

View Full Paper
YXYiLin XuRCRui ChenXLXinglu Li

Key Result

Cardiovascular MRI effectively differentiated Anderson-Fabry disease from HCM, with AFD showing lower septal native T1 values (P<0.001) and more frequent basal inferolateral LGE (P<0.001).

Study Design

Type

Case-Control (n=90)

Structured PICO

Does cardiovascular magnetic resonance imaging (CMR) at 3.0 T differentiate Anderson-Fabry disease with the c.640-801G > A mutation from hypertrophic cardiomyopathy?

P
Population
90 participants: 30 patients with Anderson-Fabry disease (AFD) harboring the c.640-801G > A mutation, 30 age- and sex-matched patients with hypertrophic cardiomyopathy (HCM), and 30 healthy controls (HC).
I
Intervention
Cardiovascular magnetic resonance imaging (CMR) at 3.0 T
C
Comparator
Comparison of CMR findings between AFD, HCM, and healthy control groups
O
Outcome
Differentiation of AFD from HCM based on CMR parameters including left ventricular wall thickness, late gadolinium enhancement (LGE) patterns, and native T1 valuessurrogate

CMR effectively differentiates late-onset Anderson-Fabry disease from hypertrophic cardiomyopathy using lower native T1 values, basal inferolateral LGE, and symmetric LVH.

Main Result

p-value: p=<0.001

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 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.

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Xu et al. (2026) conducted a case-control in Anderson-Fabry disease and hypertrophic cardiomyopathy (n=90). Cardiovascular magnetic resonance imaging (CMR) vs. Hypertrophic cardiomyopathy and healthy controls was evaluated on Septal native T1 values (p=<0.001). Cardiovascular MRI effectively differentiated Anderson-Fabry disease from HCM, with AFD showing lower septal native T1 values (P<0.001) and more frequent basal inferolateral LGE (P<0.001).

synapsesocial.com/papers/6a08950a113ba5b476de4c7dhttps://doi.org/10.1016/j.ijcha.2026.101869
Ask AI
Helpful
Bookmark
Share
View Full Paper