Imaging predictors of adverse prognosis in Fabry disease cardiomyopathy: A systematic review and meta-analysis

Kamil Stankowski, Stefano Figliozzi, Thanakorn Rojanathagoon, Dimitrios Bampatsias, Dimitrios Klettas, Lorenzo Monti, Renato Bragato, Pier-Giorgio Masci, Marco Francone, Gianluigi Condorelli, Massimo Imbriaco, Maurizio Pieroni, Antonia Camporeale, Georgios Georgiopoulos

Research output: Contribution to journalReview articlepeer-review

Abstract

BACKGROUND: Cardiac involvement represents the main cause of death in patients with Fabry disease (FD). Echocardiography and cardiovascular magnetic resonance (CMR) have an established diagnostic role, but their prognostic value remains unresolved. This systematic review and meta-analysis sought to assess the prognostic implications of imaging parameters in FD.

METHODS: PubMed, ClinicalTrials.gov, Embase, Cochrane Library and Web of Science databases were searched for studies from inception through 1 May 2024. Studies including FD patients undergoing baseline imaging assessment and clinical follow-up were selected. Pre-defined study outcomes were a cardiovascular endpoint and a composite clinical endpoint. The study protocol was registered in PROSPERO (ID CRD42022342394).

RESULTS: Fourteen studies, including 1713 FD patients (44.7% males), were selected. At pooled analysis, late gadolinium enhancement (hazard ratio [HR]: 4.45; 95% CI: 2.82-7.02), left atrium volume indexed (HR: 1.02 per mL/m 2; 95% CI: 1.01-1.03), E/e' (HR: 1.14 per unit increase; 95% CI: 1.08-1.21), left ventricular (LV) mass indexed (HR: 1.01 per mg/m 2; 95% CI: 1.00-1.02), maximum LV wall thickness (HR: 1.19 per mm, 95% CI: 1.04-1.36) and LV-global longitudinal strain (HR: 1.20 per unit increase; 95% CI: 1.16-1.25) were significantly associated with the cardiovascular endpoint, whereas T1-mapping and LV-ejection fraction were not. T1-mapping was associated with the composite endpoint (HR: 0.99 per msec increase; 95% CI: 0.98-1.00). Meta-regression analysis did not show any significant interaction between each of the potential effect modifiers.

CONCLUSIONS: Several imaging parameters were significant predictors of adverse clinical outcomes in patients with FD. Late gadolinium enhancement showed the strongest association with adverse prognosis.

Original languageEnglish
Article numbere14388
JournalEuropean Journal of Clinical Investigation
Volume55
Issue number5
Early online date22 Jan 2025
DOIs
Publication statusPublished - May 2025

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