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

Liping Zheng,1,* Lirong Lin,2 Zhiwei Wu,1,* Shuzhen Chen,1 Chunfa Weng,1 Junwei Huang,1 Meixiang Xie,3 Jianfang Huang,4 Jinzao Chen1,* 1Department of Cardiology, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China; 2Department of Cardiology, Fuzhou University Affiliated Provincial Hospital, Fuzhou, Putian, Fujian, People’s Republic of China; 3Department of Ultrasonography Lab, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China; 4Department of Medical Imaging, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China*These authors contributed equally to this workCorrespondence: Jinzao Chen, Department of Cardiology, The First Hospital of Putian City, No. 449, Nanmen West Road, Chengxiang District, Putian, Fujian, 351100, People’s Republic of China, Tel +86-13950793989, Fax +86-0594-2330980, Email [email protected]: 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