Retrospective Study
Copyright ©The Author(s) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Apr 16, 2022; 10(11): 3369-3378
Published online Apr 16, 2022. doi: 10.12998/wjcc.v10.i11.3369
Echocardiography in the diagnosis of Shone’s complex and analysis of the causes for missed diagnosis and misdiagnosis
Ye-Dan Li, Hong Meng, Kun-Jing Pang, Mu-Zi Li, Nan Xu, Hao Wang, Shou-Jun Li, Jun Yan
Ye-Dan Li, Hong Meng, Kun-Jing Pang, Mu-Zi Li, Nan Xu, Hao Wang, Department of Echocardiography, Fuwai Hospital, Beijing 100037, China
Shou-Jun Li, Jun Yan, Department of Cardiovascular Surgery, Fuwai Hospital, Beijing 100037, China
Author contributions: Li YD, Xu N and Li MZ carried out the studies, participated in collecting data, and drafted the manuscript; Li YD, Meng H, Pang KJ and Wang H performed the statistical analysis and participated in its design; Li YD, Li SJ, and Yan J participated in acquisition, analysis, or interpretation of data and draft the manuscript; all authors read and approved the final manuscript.
Institutional review board statement: The study was approved by the ethics committee of Fuwai Hospital, Beijing, China (2016YFC1302000).
Informed consent statement: The requirement for informed consent was waived by the committee because of the retrospective study nature.
Conflict-of-interest statement: We have no financial relationships to disclose.
Data sharing statement: No additional data are available.
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: Hong Meng, MD, Doctor, Department of Echocardiography, Fuwai Hospital, No. 167 North Lishi Road, Xicheng District, Beijing 100037, China. 597330958@qq.com
Received: September 3, 2021
Peer-review started: September 3, 2021
First decision: October 25, 2021
Revised: December 23, 2021
Accepted: February 27, 2022
Article in press: February 27, 2022
Published online: April 16, 2022
Processing time: 217 Days and 0.1 Hours
Abstract
BACKGROUND

Shone’s complex is a rare syndrome characterized by congenital left heart defects that can differ among the patients.

AIM

To use echocardiography in the diagnosis of Shone’s complex and analyze the causes of missed diagnosis and misdiagnosis.

METHODS

This was a retrospective study of patients who underwent echocardiography and repair surgery from February 14, 2008, to November 22, 2019. The patients were followed once a year at the outpatient clinic after surgery.

RESULTS

Sixty-six patients were included. The patients were 2.7 (0.8-5.6) years of age, and 54.5% were male. Ten (15.2%) had a history of heart surgery. The most common heart defect was the Annulo-Leaflet mitral ring (ALMR) (50/66, 75.8%), followed by coarctation of the aorta (CoA) (43/66, 65.2%). The patients had a variety of combinations of defects. Only two (3.0%) patients had all four defects. None of the patients had a family history of congenital heart disease. The preoperative echocardiographic findings were examined against the intraoperative findings. Echocardiography missed an ALMR in 31 patients (47.0%), a parachute mitral valve (PMV) in one patient (1.5%), subaortic stenosis in one patient (1.5%), and CoA in two patients (3.0%).

CONCLUSION

Echocardiography is an effective method to diagnose the Shone’s complex. Due to this disease’s complexity and interindividual variability, Improving the understanding of the disease can reduce misdiagnosis and missed diagnosis.

Keywords: Shone’s syndrome; Congenital heart disease; Mitral valve; Echocardiography; Left heart; Misdiagnosis

Core Tip: This was a retrospective study with the largest sample size which aimed to examine the use of echocardiography in the diagnosis of Shone’s complex and to analyze the possible causes of missed diagnosis and misdiagnosis. Sixty-six patients were included. The preoperative echocardiographic findings were examined against the intraoperative findings. Echocardiography missed an Annulo-Leaflet mitral ring in 31 patients, a parachute mitral valve in one patient, subaortic stenosis in one patient, and coarctation of the aorta in two patients. Due to this disease’s complexity and interindividual variability, echocardiography missed diagnosis can occur. Combining the results of echocardiography, computed tomography, magnetic resonance imaging might be helpful.