Key result
Left ventricular hypertrophy should raise suspicion of Fabry disease, especially if unexplained or associated with right ventricular hypertrophy, and can be differentiated using ECG and imaging.
Why the study?
Diagnosis of treatable Fabry disease in patients with LV hypertrophy is often hampered by clinical heterogeneity, LV hypertrophy phenocopies, and clinician unawareness.
Clinicians should consider Fabry disease in the differential diagnosis of unexplained left ventricular hypertrophy, utilizing ECG, imaging, and multisystemic clinical clues.
May prompt Fabry evaluation in unexplained LVH; leaves open prospective validation of imaging criteria.
BACKGROUND: Left ventricular (LV) hypertrophy is a common clinical finding. Differential diagnosis includes Fabry disease, a rare and progressive, but treatable storage disease caused by deficiency of α-galactosidase A. However, diagnosis of Fabry is often hampered by its clinical heterogeneity, LV hypertrophy phenocopies and unawareness of the clinician. METHODS: This review summarises clinical data, family history, electrocardiogram (ECG) and imaging (echocardiogram and cardiovascular magnetic resonance (CMR)) characteristics to differentiate aetiologies of LV hypertrophy including clues for the diagnosis of Fabry. RESULTS: LV hypertrophy is a consequence of pressure overload mostly, but differential diagnosis includes hypertrophic cardiomyopathy and infiltrative diseases. Clinical data, ECG, type and degree of LV hypertrophy, functional and tissue characteristics differ among aetiologies. LV hypertrophy in Fabry is progressive and mostly concentric but may copy any hypertrophic cardiomyopathy. Dependent on residual alfa-galactosidase A enzyme activity, degree of LV hypertrophy in Fabry may vary. Initially, low myocardial CMR T1-map values are calculated. At a later stage, midwall late gadolinium enhancement of the inferolateral LV wall may occur. Global longitudinal strain may be depressed in the inferolateral wall. Voltage criteria for LV hypertrophy and short PQ interval are common. Right ventricular (RV) hypertrophy is frequent. In addition, multisystemic symptoms including neuropathic pain, hypohidrosis, proteinuria, renal insufficiency and familial young stroke are pointing to Fabry. CONCLUSIONS: LV hypertrophy should raise suspicion of Fabry disease, especially if LV hypertrophy is unexplained and/or associated with RV hypertrophy. In Fabry, LV hypertrophy may be heterogeneous and mimic any hypertrophic cardiomyopathy. ECG, multisystemic symptoms and imaging may provide clues for Fabry.
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Paelinck et al. (2024) conducted a review in Left ventricular hypertrophy and Fabry disease. Left ventricular hypertrophy should raise suspicion of Fabry disease, especially if unexplained or associated with right ventricular hypertrophy, and can be differentiated using ECG and imaging.
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