Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report

Maomao Zhao; Xiaowei Niu; Lu Bai; Yinchang Zhang; Ting Wang; Yongling Wa; Junchu Wei; Kang Dong; Xin Zhang; Ming Bai

doi:10.3390/jcdd10090389

Unexplained Left Ventricular Hypertrophy Diagnosed as a Cardiac Variant of Late-Onset Fabry Disease: A Case Report

J Cardiovasc Dev Dis. 2023 Sep 10;10(9):389. doi: 10.3390/jcdd10090389.

Authors

Maomao Zhao¹, Xiaowei Niu¹, Lu Bai¹, Yinchang Zhang², Ting Wang¹, Yongling Wa¹, Junchu Wei¹, Kang Dong¹, Xin Zhang¹, Ming Bai¹

Affiliations

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.

Keywords: Fabry disease; diastolic dysfunction; early diagnosis; left ventricular hypertrophy.

Publication types

Case Reports

Grants and funding

This work was supported by grants from the Science and Technology Program of Gansu Province (NO.21JR1RA100), the Scientific Research Project of Health Industry of Gansu Province (NO.GSWSKY2020-64), the Science and Technology Planning Project of Lanzhou City (NO.2020-ZD-72), the Youth Doctoral Fund Project of the Department of Education in Gansu Province (2022QB-011), the Special Fund for Civil-Military Integration Development of Gansu Province (NO.2060303), and the Foundation for Scientific Research of the First Hospital of Lanzhou University (NO.ldyyyn2021-115). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.