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Delayed-Enhanced Cardiac MRI for Differentiation of Fabry's Disease from Symmetric Hypertrophic Cardiomyopathy

¹ Department of Radiology, San Raffaele Scientific Institute and Vita-Salute University, Via Olgettina 60, 20132, Milan, Italy.
² Cardiology Department, Catholic University of the Sacred Heart, Rome, Italy.
³ Internal Medicine, Section of Nutrition and Metabolism, San Raffaele Scientific Institute, Milan, Italy
⁴ Center for Physical Exercise for Health and Wellness, c/o CDI Faculty of Exercise Sciences, Università degli Studi di Milano, Milan, Italy.
⁵ Department of Heart and Great Vessels "Attilio Reale," La Sapienza University Rome, Rome, Italy.

OBJECTIVE. Fabry's disease may be difficult to differentiate from symmetric hypertrophic cardiomyopathy. Our aim was to compare the myocardial location and distribution patterns of delayed enhancement between patients with Fabry's disease who are affected by symmetric myocardial hypertrophy and patients with symmetric hypertrophic cardiomyopathy in order to identify a specific sign to best differentiate the two diseases.

CONCLUSION. Patients with Fabry's disease–related hypertrophy showed left ventricular (LV) delayed enhancement with a typical and consistently found pattern characterized by the involvement of the inferolateral basal or mid basal segments and a mesocardial distribution that spared the subendocardium. This pattern seems to be specific to Fabry's disease; in fact, patients with symmetric hypertrophic cardiomyopathy had variable locations and distributions of delayed enhancement. These observations may contribute to identifying Fabry's disease as a specific cause of symmetric hypertrophy.

Keywords: cardiac MRI • delayed-enhanced MRI • Fabry's disease • hypertrophic cardiomyopathy

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