Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 26, 2021; 9(18): 4823-4828
Published online Jun 26, 2021. doi: 10.12998/wjcc.v9.i18.4823
Anderson-Fabry disease presenting with atrial fibrillation as earlier sign in a young patient: A case report
Hangyul Kim, Min Gyu Kang, Hyun Woong Park, Jeong-Rang Park, Jin-Yong Hwang, Kyehwan Kim
Hangyul Kim, Min Gyu Kang, Hyun Woong Park, Kyehwan Kim, Department of Internal Medicine, Gyeongsang National University Hospital, Jinju 52727, South Korea
Jeong-Rang Park, Jin-Yong Hwang, Department of Internal Medicine, Gyeongsang National University School of Medicine and Gyeongsang National University Hospital, Jinju 52727, South Korea
Author contributions: Park JR was the patient’s cardiologist, reviewed the literature and contributed to manuscript drafting; Kim H and Kim K reviewed the literature and contributed to manuscript drafting; Kang MG and Park HW performed the interpretation of clinical findings and electrocardiography and contributed to manuscript drafting; Park JR who is an expert in the echocardiography and cardiologist analyzed and interpreted the echocardiographic imaging findings; Hwang JY performed the treatment strategy and diagnosis for Anderson-Fabry disease consultation, reviewed the literature and drafted the manuscript; Kim K and Kim H were responsible for the revision of the manuscript for important intellectual content; and all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consent was obtained from the patient for publication of this report and any accompanying images.
Conflict-of-interest statement: The authors declare that they have no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Kyehwan Kim, MD, Assistant Professor, Doctor, Department of Internal Medicine, Gyeongsang National University Hospital, 79, Gangnam-ro, Gyeongsangnam-do, Jinju 52727, South Korea. nicol2000@nate.com
Received: January 28, 2021
Peer-review started: January 28, 2021
First decision: February 25, 2021
Revised: March 3, 2021
Accepted: May 15, 2021
Article in press: May 15, 2021
Published online: June 26, 2021
Abstract
BACKGROUND

Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A enzyme activity in which glycosphingolipids gradually accumulate in multi-organ systems. Cardiac manifestations are the leading cause of mortality in patients with AFD. Among them, arrhythmias comprise a large portion of the heart disease cases in AFD, most of which are characterized by conduction disorders. However, atrial fibrillation as a presenting sign at the young age group diagnosed with AFD is uncommon.

CASE SUMMARY

We report a case of a 26-year-old man who was admitted with chest discomfort. Left ventricular hypertrophy was fulfilled in the criteria by the Sokolow-Lyon index and atrial fibrillation on the 12 Leads-electrocardiography (ECG) that was documented in the emergency room. After spontaneously restored to normal sinus rhythm, relationships between P and R waves, including a shorter PR interval on the ECG, were revealed. The echocardiographic findings showed thickened interventricular septal and left posterior ventricular walls. Based on the clues mentioned earlier, we realized the possibility of AFD. Additionally, we noticed the associated symptoms and signs, including bilateral mild hearing loss, neuropathic pain, anhidrosis, and angiokeratoma on the trunk and hands. He was finally diagnosed with classical AFD, which was confirmed by the gene mutation and abnormal enzyme activity of α-galactosidase A.

CONCLUSION

This case is a rare case of AFD as a presentation with atrial fibrillation at a young age. Confirming the relationship between P and Q waves on the ECG through sinus rhythm conversion may help in differential diagnosis of the cause of atrial fibrillation and hypertrophic myocardium.

Keywords: Fabry disease, Atrial fibrillation, Electrocardiography, Cardioversion, Glycosphingolipids, Case report

Core Tip: Atrial fibrillation as the initial presenting sign at a young age is rare. It was essential to identify the cause of the atrial fibrillation and hypertrophic myocardium with no history of hypertension in the young patient. Even though atrial fibrillation was incidentally converted into sinus rhythm, the restored rhythm clarified the shortened PR interval and segment without delta wave, which became a crucial clue for Anderson-Fabry disease (AFD) diagnosis. Therefore, sinus conversion to detect the relationship between P and QRS may be needed and helpful in differential diagnoses such as AFD and other heart diseases.