Fabry disease as a cause of hypertrophic cardiomyopathy

Moiseev S.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Tao E.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Moiseev A.: Sechenov First Moscow State Medical University

Mershina E.: Moscow State University

Sholomova V.: Sechenov First Moscow State Medical University

Bulanov N.: Tareev Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

Pavlikova E.: Moscow State University

Fomin V.: Vinogradov Clinic of Internal Diseases, Sechenov First Moscow State Medical University, Moscow, Russia

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Summary

Aim

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.

Results

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.

Conclusion

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.