This case report highlights that Fabry's disease can mimic hypertrophic obstructive cardiomyopathy, with endomyocardial biopsy confirming extensive myocardial involvement.
Consider Fabry disease in apparent hypertrophic cardiomyopathy; this case extends the differential but leaves broader screening open.
The diagnosis of hypertrophic obstructive cardiomyopathy is based on a constellation of clinical and hemodynamic findings including left ventricular hypertrophy, asymmetric septal hypertrophy, small left ventricular cavity size, systolic anterior motion of the mitral valve, and a dynamic pressure gradient between the left ventricle and the systemic arteries.1 2 3 Recently, we studied a 32-year-old man with known Fabry's disease involving the kidneys, who had the typical clinical, echocardiographic, and invasive hemodynamic findings of hypertrophic cardiomyopathy with a dynamic left ventricular-arterial pressure gradient. However, percutaneous right and left ventricular endomyocardial biopsies demonstrated extensive myocardial involvement by Fabry's disease, and suggested that in . . .
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Colucci et al. (1982) studied this question.
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