Late diagnosis of late onset Fabry disease.
TG, S., H, C., & J, T. (2026). Late diagnosis of late onset Fabry disease.. BMJ case reports. https://doi.org/10.1136/bcr-2026-272375
TG S, H C, J T. Late diagnosis of late onset Fabry disease.. BMJ case reports. 2026; doi: 10.1136/bcr-2026-272375
TG S, H C, J T. Late diagnosis of late onset Fabry disease.[J]. BMJ case reports. 2026. DOI: 10.1136/bcr-2026-272375.
@article{tg2026,
author = {Scully TG and Chalinor H and Theuerle J},
title = {Late diagnosis of late onset Fabry disease.},
journal = {BMJ case reports},
year = {2026},
doi = {10.1136/bcr-2026-272375},
note = {PMID: 42373203},
}
TY - JOUR AU - Scully TG AU - Chalinor H AU - Theuerle J TI - Late diagnosis of late onset Fabry disease. T2 - BMJ case reports PY - 2026 DO - 10.1136/bcr-2026-272375 AN - PMID:42373203 ER -
A male in his 50s initially presented with left ventricular hypertrophy (LVH) identified on transthoracic echocardiogram. He was diagnosed with hypertrophic cardiomyopathy without any further investigations. He later presented in his 70s with decompensated heart failure. A cardiac MRI was performed that demonstrated extensive scarring, and the patient was labelled with a presumptive diagnosis of cardiac amyloidosis. An endomyocardial biopsy demonstrated extensive myocyte hypertrophy and fibrosis but was non-diagnostic in identifying a cause of the LVH. Genetic testing revealed that the patient had a genetic variant in the GLA gene, which encodes for the α-galactosidase A enzyme that is known to be associated with adult onset of Fabry disease. This case highlights the importance of early incorporation of genetic screening and advanced imaging modalities in patients presenting with LVH.