Key result
CMR native T1 mapping detects late-onset Fabry disease presenting as complete heart block.
Why the study?
This case report illustrates the diagnostic role of native T1 mapping on cardiac magnetic resonance in evaluating unexplained left ventricular hypertrophy presenting with complete atrioventricular block.
Case Report (n=1)
This case report highlights native T1 mapping on cardiac magnetic resonance as a key diagnostic biomarker for identifying late-onset Fabry cardiomyopathy in patients presenting with unexplained left ventricular hypertrophy and complete atrioventricular block.
Native T1 mapping may aid Fabry diagnosis in unexplained LVH with conduction disease; leaves open prospective validation before broader adoption.
A 63-year-old man presented with symptomatic complete atrioventricular block requiring urgent pacemaker implantation. Evaluation revealed non-obstructive left ventricular hypertrophy with normal coronary arteries. Cardiac magnetic resonance showed diffusely reduced native T1 values and inferolateral late gadolinium enhancement, suggesting Fabry cardiomyopathy; amyloidosis was excluded by bone scintigraphy. Diagnosis was confirmed by markedly reduced alpha-galactosidase A activity, elevated lyso-Gb3, and a pathogenic hemizygous GLA variant (p.Asn215Ser). Enzyme replacement therapy with agalsidase beta was initiated, with early stabilization of myocardial deformation and septal thickness. This case highlights native T1 mapping as a key diagnostic biomarker in unexplained left ventricular hypertrophy.
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Bentama et al. (2026) conducted a case report in Late-onset cardiac Fabry disease presenting with complete atrioventricular block and unexplained non-obstructive left ventricular hypertrophy (n=1). Cardiac magnetic resonance native T1 mapping and agalsidase beta enzyme replacement therapy was evaluated on Diagnosis of Fabry cardiomyopathy and stabilization of myocardial deformation and septal thickness. Cardiac magnetic resonance native T1 mapping identified diffusely reduced T1 values that led to the diagnosis of late-onset Fabry cardiomyopathy in a 63-year-old man with complete heart block.
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