Multimodality imaging assessment of cardiac involvement in classic and late-onset Anderson-Fabry disease
Jiali Fan1, Ru Zhao1, Jun Wang2
1Department of Cardiology, The First Affiliated Hospital of Soochow University, Suzhou, China.
Insights
Classic Anderson-Fabry disease (AFD) shows more severe cardiac issues, particularly in males, compared to late-onset AFD. This highlights the need for close cardiac monitoring in classic AFD patients.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Anderson-Fabry disease (AFD) presents with classic and late-onset phenotypes, sharing cardiac involvement but differing in severity and presentation.
- Limited comparative data exists on cardiac imaging (2D-STE), atrioventricular coupling, and ECG characteristics between classic and late-onset AFD.
- Multimodality imaging is crucial for understanding and differentiating cardiac manifestations in AFD subtypes.
Purpose of the Study:
- To compare cardiac involvement in classic versus late-onset Anderson-Fabry disease using multimodality imaging.
- To assess differences in echocardiographic, electrocardiographic, and cardiac magnetic resonance parameters between AFD phenotypes.
- To investigate the impact of age and sex on cardiac involvement in both AFD subtypes.
Main Methods:
- Retrospective analysis of 80 Anderson-Fabry disease patients (40 classic, 40 late-onset).
- Utilized echocardiography, ECG, and cardiac magnetic resonance (CMR) with inverse probability of treatment weighting (IPTW) for balance.
- Assessed left atrioventricular coupling index (LACI), left atrial (LA) strain, left ventricular (LV) global longitudinal strain (GLS), late gadolinium enhancement (LGE), and T1 values, employing linear mixed models and restricted cubic spline (RCS) analysis.
Main Results:
- Classic AFD patients exhibited more severe ECG abnormalities and greater impairment in LV diastolic dysfunction (LVDD), GLS, and LA function compared to late-onset AFD.
- Classic AFD males showed significantly worse GLS and LA function, larger LA volumes, and higher LACI than late-onset AFD males.
- LACI increased and progressed more rapidly with age in classic AFD. Both LVMI and GLS showed nonlinear associations with age in both subtypes.
Conclusions:
- Classic Anderson-Fabry disease is associated with more severe cardiac involvement than the late-onset form, particularly in males.
- Multimodality imaging reveals distinct cardiac profiles between classic and late-onset AFD, with classic AFD demonstrating greater functional and structural impairment.
- Close cardiac monitoring is essential for patients with classic AFD due to the higher burden of cardiac involvement.
Background:
Anderson-Fabry disease (AFD) manifests in two primary phenotypes-classic and late-onset-that share some clinical features but also exhibit distinct differences. Although both subtypes involve the heart, direct comparisons of their two-dimensional speckle tracking echocardiographic (2D-STE), atrioventricular coupling and comprehensive electrocardiographic (ECG) characteristics remain limited. Therefore, the aim of this study was to utilize multimodality imaging assessment to compare cardiac involvement in classic and late-onset AFD.
Methods:
This retrospective study included 80 AFD patients (40 classic, 40 late-onset). Echocardiography, ECG and cardiac magnetic resonance (CMR) were performed, followed by inverse probability of treatment weighting (IPTW) for age and sex balance. The left atrioventricular coupling index (LACI), left atrial (LA) strain, left ventricular (LV) global longitudinal strain (GLS), late gadolinium enhancement (LGE) and T1 values were assessed. Linear mixed models and restricted cubic spline (RCS) analysis were used to explore the effects of age and nonlinear relationships.
Results:
After IPTW adjustment, classic AFD patients showed more severe ECG abnormalities, including higher prevalence of delta waves, short PQ interval and pathological repolarization, increased Sokolow-Lyon indices, and lower T-wave amplitudes. On echocardiography and CMR, classic AFD patients exhibited greater impairment in LV diastolic dysfunction (LVDD), GLS, and LA function, along with larger LA volumes and lower T1 values, than those with late-onset AFD. Specifically, classic AFD males demonstrated significantly more impaired GLS and LA function, as well as larger LA volumes and LACI compared to late-onset AFD males, whereas classic females exhibited more severe LVDD without significant intergroup differences in GLS and LA function. Notably, LACI was significantly higher and progressed more rapidly with age in classic AFD patients. RCS analysis revealed that both LVMI and GLS demonstrated significant nonlinear associations with age in both classic and late-onset AFD patients, with a slower rate of progression observed after 41 years in classic patients and 46 years in late-onset patients.
Conclusions:
Classic AFD was associated with more severe cardiac involvement than late-onset AFD, especially in AFD males, highlighting the importance of close cardiac monitoring in these patients.
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