Female Fabry Patient With Left Ventricular Outflow Tract Obstruction

Q4 Medicine

JACC. Case reports Pub Date : 2025-02-19 DOI:10.1016/j.jaccas.2024.102702

Jiaqi Li MD, Meiling Chang MD, Zeyuan Mei MD, Qing Zhu MD, PhD, Xin Yue MD, PhD, Mei Zhang MD, PhD, Mengmeng Li MD, PhD, Xiaoling Liu MD, PhD

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Abstract

Background

Cardiac involvement in Fabry disease is usually characterized by left ventricular hypertrophy (LVH) without obstruction at rest.

Case Summary

A 59-year-old female patient with progressive chest tightness misdiagnosed as having hypertrophic cardiomyopathy due to LVH with obstruction was finally diagnosed with Fabry disease. Echocardiography showed LVH with severe obstruction, “binary sign,” papillary muscle hypertrophy, and depressed longitudinal strain in the basal inferolateral region. The patient felt chest tightness worsened 1 year after receiving enzyme replacement therapy. Percutaneous endocardial septal radiofrequency ablation was performed to relieve obstruction.

Discussion

It is rare for women with Fabry disease to present with severe symptoms, but it is possible. LVH with obstruction should not be a potential point of view to relax the vigilance of Fabry disease. Percutaneous endocardial septal radiofrequency ablation may help to relieve left ventricular outflow tract obstruction in Fabry disease.