Fabry disease as a cause of hypertrophic cardiomyopathy

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To evaluate the occurence of cardiac phenotype imitating hypertrophic cardiomyopathy (HCMP) in adult patients with Fabry disease.

Material and methods

We selected patients who were diagnosed with HCMP or left ventricular hypertrophy (LVH) of unknown origin among adult patients with Fabry disease and evaluated the rate of early alerting signs and symptoms and clinical and MR features of heart disease in this group.


HCMP or LVH of unknown origin were diagnosed in 16 (8.6%) of 187 patients with Fabry disease, including 5 (4.3%) of 115 males and 11 (5.3%) of 72 females. Two patients with severe LVH and left ventricular outflow tract obstruction underwent septal myectomy. In patients with cardiac phenotype, median left ventricular myocardium mass index was 127.0 g/m2, and it was higher in males than in females. Cardiac MR imaging showed asymmetic septal hypertrophy in 10 (62.5%) of 16 patients and late gadolinium enhancement in 6 (50.0%) of 12 patients. Eight (50.0%) patients presented with typical signs and symptoms of Fabry disease (neuropathic pain, angiokeratoma and/or hypohidrosis) from childhood or adolescence, while 15 (93.8%) patients had signs of kidney or CNS involvement.


All patients with HCMP should be tested for Fabry disease even in the absence of early alerting signs and symptoms.

Key words

Hypertrophic cardiomyopathy, Fabry disease.