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Left ventricular hypertrophy: do not forget Fabry disease. Diagnostic work-up and differential diagnosis
Bernard P Paelinck1,2, Antoine Bondue3, Tomas Robyns4
1Department of Cardiology, University Hospital Antwerp, Antwerp, Belgium.
Insights
Left ventricular hypertrophy can indicate Fabry disease, a treatable genetic disorder. Early diagnosis of Fabry disease is crucial, especially when LV hypertrophy is unexplained or accompanied by RV hypertrophy.
Area of Science:
- Cardiology
- Genetics
- Rare Diseases
Background:
- Left ventricular (LV) hypertrophy is a common clinical finding.
- Fabry disease, a genetic disorder caused by alpha-galactosidase A deficiency, is a rare but treatable cause of LV hypertrophy.
- Diagnosis of Fabry disease is often delayed due to heterogeneous presentation, LV hypertrophy mimicry, and low clinical awareness.
Purpose of the Study:
- To review clinical data, family history, ECG, and imaging characteristics to differentiate causes of LV hypertrophy.
- To identify clues for diagnosing Fabry disease in patients with LV hypertrophy.
Main Methods:
- Systematic review of clinical data, family history, ECG, echocardiography, and cardiovascular magnetic resonance (CMR) findings.
- Analysis of differentiating characteristics among various etiologies of LV hypertrophy.
Main Results:
- LV hypertrophy can be caused by pressure overload, hypertrophic cardiomyopathy, infiltrative diseases, or Fabry disease.
- Fabry disease presents with progressive, often concentric LV hypertrophy that can mimic other cardiomyopathies.
- Key indicators for Fabry disease include specific ECG findings (voltage criteria for LVH, short PQ interval), frequent right ventricular (RV) hypertrophy, low myocardial CMR T1-map values, late gadolinium enhancement, depressed global longitudinal strain, and multisystemic symptoms.
Conclusions:
- LV hypertrophy warrants suspicion for Fabry disease, particularly when unexplained or associated with RV hypertrophy.
- Fabry disease-related LV hypertrophy can be heterogeneous and mimic other hypertrophic cardiomyopathies.
- ECG, multisystemic symptoms, and advanced imaging are crucial for identifying Fabry disease.
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.
