Zhao YT, Cao XQ, Mu XL. Hypertrophic cardiomyopathy secondary to deficiency in lysosome-associated membrane protein-2: A case report. World J Cardiol 2023; 15(11): 609-614 [PMID: 38058400 DOI: 10.4330/wjc.v15.i11.609]
Corresponding Author of This Article
Xiao-Lin Mu, MS, Doctor, Department of Radiology, Central Hospital of Dalian University of Technology, No. 826 Southwest Road, Shahekou District, Dalian 116033, Liaoning Province, China. dugumuxin@163.com
Research Domain of This Article
Cardiac & Cardiovascular Systems
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (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/
World J Cardiol. Nov 26, 2023; 15(11): 609-614 Published online Nov 26, 2023. doi: 10.4330/wjc.v15.i11.609
Hypertrophic cardiomyopathy secondary to deficiency in lysosome-associated membrane protein-2: A case report
Ye-Tong Zhao, Xiu-Qun Cao, Xiao-Lin Mu
Ye-Tong Zhao, Xiao-Lin Mu, Department of Radiology, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning Province, China
Ye-Tong Zhao, Graduate School, Dalian Medical University, Dalian 116000, Liaoning Province, China
Xiu-Qun Cao, Departments of Ultrasound and Health Medicine, Central Hospital of Dalian University of Technology, Dalian 116033, Liaoning Province, China
Author contributions: Cao XQ and Mu XL collected the clinical data; Mu XL and Zhao YT analyzed and interpreted the clinical data; Zhao YT drafted the manuscript; Mu XL guided the completion of this article, supervising and revising the manuscript for intellectual content; All of the authors have read and approved the final manuscript.
Informed consent statement: Written informed consent was obtained from the patient’s parents for the publication of this report and any accompanying images.
Conflict-of-interest statement: All the authors have no conflicts of interest to declare.
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: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Xiao-Lin Mu, MS, Doctor, Department of Radiology, Central Hospital of Dalian University of Technology, No. 826 Southwest Road, Shahekou District, Dalian 116033, Liaoning Province, China. dugumuxin@163.com
Received: August 23, 2023 Peer-review started: August 23, 2023 First decision: October 9, 2023 Revised: October 19, 2023 Accepted: November 3, 2023 Article in press: November 3, 2023 Published online: November 26, 2023
Abstract
BACKGROUND
Danon disease (DD), in which mutations in the X-linked lysosome-associated membrane protein-2 (LAMP-2) gene result in hypertrophic cardiomyopathy, is a rare disease, reported primarily in small samples or cases. However, with the development of cardiac magnetic resonance imaging and genetic technology in recent years, the number of reports has increased.
CASE SUMMARY
We report a case of DD in an adolescent male patient, confirmed by genetic testing. The patient was admitted to our hospital with complaints of a three-year history of chest tightness and shortness of breath. His preliminary clinical diagnosis is hypertrophic cardiomyopathy. Our report includes the patient’s clinical course from hospital admission to death, step-by-step diagnosis, treatment course, and noninvasive imaging features. We highlight how a noninvasive diagnostic approach, based solely on clinical and imaging “red flags” for DD, can be used to achieve a diagnosis of DD with a high degree of confidence.
CONCLUSION
DD is a very dangerous cardiomyopathy, and it is necessary to achieve early diagnosis and treatment.
Core Tip: Danon disease (DD) is a rare X-linked disorder caused by a deficiency of lysosome-associated membrane protein-2. DD is clinically characterized by severe cardiomyopathy, skeletal muscle disease, and intellectual disability. The most frequent high-risk form of DD is cardiomyopathy, which can result in arrhythmia(s), early-onset heart failure, and even sudden cardiac death. Our case report intents to raise the awareness of DD and improve the clinical suspicion of DD.
