Abstract:

Objective   To study the prevalence of Fabry disease in patients with hypertrophic cardiomyopathy(HCM). Methods   We screened the plasma αgalactosidase A activity in 427 patients with HCM. Patients with low activity (0-30% of that in the normal controls in men, and 0-50% in women) underwent genetic study of the GLA gene. Those patients with low enzymatic activity and disease-causing mutations in the GLA gene were diagnosed as having Fabry disease. Results   Thirteen patients had a lower enzymatic activity compared with the normal controls(P＜0.05). Four men and one woman had GLA mutations: A143T, E358del, S238N, G1170A and G1168A. We found 3 carriers in the female patient′s family. The prevalence of Fabry disease in the population with HCM was 1.2%. More of the patients with Fabry disease had kidney disease and a family history of kidney disease compared with the other patients with HCM(P＜0.05). Conclusion    Patients with Fabry disease are often misdiagnosed as having HCM, so before diagnosing HCM to those HCM patients complicated by kidney disease, we should differentiate them from patients with hypertrophic cardiomyopathy.

Key words: Cardiomyopathy, hypertrophic; Fabry disease; Diagnosis