Affiliation:
1. Department of Cardiology, First Hospital of Lanzhou University, Lanzhou University, Lanzhou 730030, China
2. Department of Cardiac Surgery, Lanzhou University Second Hospital, Lanzhou University, Lanzhou 730030, China
Abstract
The cardiac variant of Fabry disease (FD) has high rates of missed diagnosis and misdiagnosis due to the lack of systemic symptoms. Here, we report a case of a 68-year-old female with delayed-onset FD presenting as concentric left ventricular hypertrophy (LVH) with right bundle branch block, atrial fibrillation, and diastolic dysfunction, which was first presented with coronary artery spasm. Early cardiac-specific signs are crucial for diagnosing this disease due to the lack of extracardiac indications and the late onset of symptoms. This case raises a new red flag that patients with unexplained LVH and its atypical electrocardiographic (ECG) manifestations accompanied by diastolic dysfunction should be considered for FD. We also recommend further refinement of examinations associated with Fabry disease, which will contribute to the early diagnosis and treatment of the disease.
Funder
Science and Technology Program of Gansu Province
Scientific Research Project of Health Industry of Gansu Province
Science and Technology Planning Project of Lanzhou City
Youth Doctoral Fund Project of the Department of Education in Gansu Province
Special Fund for Civil-Military Integration Development of Gansu Province
Foundation for Scientific Research of the First Hospital of Lanzhou University
Subject
Pharmacology (medical),General Pharmacology, Toxicology and Pharmaceutics