GLA and MYH7 Double Mutation Causing Fabry Disease with Familial Hypertrophic Cardiomyopathy: A Case Report

Purpose: To explore clinical manifestations and treatment strategies in a patient with dual GLA and MYH7 mutations causing Fabry disease (FD) and hypertrophic cardiomyopathy (HCM), emphasizing the value of comprehensive genetic testing in complex cardiomyopathies. Patients and Methods: We studied a 40-year-old Han Chinese woman with FD and familial HCM due to GLA and MYH7 mutations. Diagnosis involved echocardiography, electrocardiography, cardiac MRI, genetic sequencing, and α-galactosidase A activity assays. Treatment included pharmacotherapy (rivaroxaban, sacubitril/valsartan, bisoprolol, spironolactone, torasemide), agalsidase α enzyme replacement, and surgery for left ventricular outflow tract obstruction. Results: The patient had severe left ventricular hypertrophy (interventricular septum 35 mm) and significant obstruction (LVOTG 121 mmHg). After 3 months, the 6-minute walk test distance increased from 132 to 369 meters, NT-proBNP levels dropped from 2164 to 1911 pg/mL, and the KCCQ score rose from 30.9 to 85.5, indicating improved quality of life. Conclusion: Comprehensive genetic testing is crucial for diagnosing complex cardiomyopathies. A multidisciplinary approach effectively improves symptoms and quality of life in patients with dual genetic mutations. Keywords: Fabry disease, hypertrophic cardiomyopathy, MYH7 gene, GLA gene, enzyme replacement therapy, double mutation