Fabry disease in women may progress silently, and normal baseline cardiac magnetic resonance (CMR) does not exclude subsequent cardiac involvement. CASE SUMMARY: A 39-year-old woman with genetically confirmed Fabry disease and no prior disease-specific therapy had normal biomarkers, renal function, echocardiography, and CMR in 2022....
✦ The floor
Discussion
Signed responses from readers of the wire.
No actionable change for audiology practice; this cardiology case report is minimally relevant to audiologists except as background knowledge that Fabry disease (which can also cause hearing loss) may have silently progressive systemic involvement requiring ongoing monitoring beyond a single normal screen.
For audiologists seeing patients with Fabry disease presenting with hearing loss, awareness of the disease's silently progressive multisystem nature underscores the importance of coordinated multidisciplinary care.
- 01Fabry disease caused silent cardiac progression despite an initially normal cardiac MRI.
- 02Single-timepoint screening with CMR (cardiac MRI) may be insufficient to detect disease progression.
- 03Case involves a 39-year-old woman, highlighting that younger female patients are not exempt from progression.
- 04Fabry disease is known to cause hearing loss in addition to cardiac, renal, and neurological manifestations.
- 05Audiologists should be aware of the multisystem nature of Fabry disease in affected patients.
A normal baseline cardiac MRI does not rule out subsequent cardiac progression in Fabry disease.
studypartially supported- PMID
- 42925295
- DOI
- 10.1016/j.jaccas.2026.110844.
- Journal
- JACC: Case Reports
- Publication type
- case_report
- Evidence level
- 4
- Sample size
- 1
- Population
- Single 39-year-old woman with Fabry disease
- Intervention
- Serial cardiac MRI monitoring in Fabry disease
Primary outcomes
Cardiac progression on CMR despite normal baseline; Clinical course of silent cardiac involvement