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Cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy
C Chimenti1, R Ricci, M Pieroni
1Istituto di Cardiologia, Università Cattolica del Sacro Cuore, Roma.
Insights
Cardiac Fabry's disease can mimic hypertrophic cardiomyopathy. Diagnosis requires endomyocardial biopsy and low alpha-galactosidase A activity, crucial for enzyme replacement therapy.
Area of Science:
- Cardiology
- Genetics
- Pathology
Background:
- Fabry's disease is a rare genetic disorder.
- Cardiac involvement can present atypically.
Observation:
- A case report details a patient with cardiac Fabry's disease.
- The condition mimicked hypertrophic cardiomyopathy.
Findings:
- Biventricular endomyocardial biopsy revealed hypertrophied myocardiocytes with characteristic vacuoles.
- Electron microscopy showed lamellated cytoplasmic figures.
- Low alpha-galactosidase A activity confirmed the diagnosis.
Implications:
- Accurate diagnosis is vital for prognosis and treatment.
- Enzyme replacement therapy is a potential treatment option.
Abstract:
A case of cardiac variant of Fabry's disease mimicking hypertrophic cardiomyopathy is reported. The diagnosis was obtained by biventricular endomyocardial biopsy showing severely hypertrophied myocardiocytes with large periodic acid-Schiff and Sudan black positive perinuclear vacuoles, shown at electromicroscopy to consist of lamellated cytoplasmic figures highly suggestive of Fabry's disease, and confirmed by diagnostic low activity of alpha-galactosidase A in the peripheral lymphocytes. Invasive approach was suggested by the occurrence of a long-standing atrial fibrillation that failed to determine deterioration of cardiac function. Differential diagnosis between hypertrophic cardiomyopathy and the cardiac variant of Fabry's disease is relevant for prognostic and therapeutic implications including the perspective of an enzyme replacement therapy.