Case Report
Copyright ©The Author(s) 2023. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Cardiol. Nov 26, 2023; 15(11): 615-622
Published online Nov 26, 2023. doi: 10.4330/wjc.v15.i11.615
Down syndrome child with multiple heart diseases: A case report
Mo-Wei Kong, Yi-Jing Li, Jun Li, Zhen-Ying Pei, Yu-Yu Xie, Guo-Xiang He
Mo-Wei Kong, Yi-Jing Li, Jun Li, Zhen-Ying Pei, Guo-Xiang He, Department of Cardiology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China
Yu-Yu Xie, Department of Dermatology, Guiqian International General Hospital, Guiyang 550018, Guizhou Province, China
Co-first authors: Mo-Wei Kong and Yi-Jing Li.
Co-corresponding authors: Jun Li and Guo-Xiang He.
Author contributions: Kong MW and Li YJ conceived and designed the study protocol and drafted the manuscript; Li J and He GX were involved in the data collection; Pei ZY and Xie YY analyzed the data; all authors were involved in the critical review of the results and have contributed to, read, and approved the final manuscript. Kong MW and Li YJ contributed equally to this work as co-first authors. Li J and He GX contributed equally to this work as co-corresponding authors. The reasons for designating Kong MW and Li YJ as co-first authors, and Li J and He GX as co-corresponding authors are threefold. First, the research was performed as a collaborative effort, and the designation of co-corresponding authorship accurately reflects the distribution of responsibilities and burdens associated with the time and effort required to complete the study and the resultant paper. This also ensures effective communication and management of post-submission matters, ultimately enhancing the paper’s quality and reliability. Second, the overall research team encompassed authors with a variety of expertise and skills from different fields, and the designation of co-corresponding authors best reflects this diversity. This also promotes the most comprehensive and in-depth examination of the research topic, ultimately enriching readers’ understanding by offering various expert perspectives. Third, the co-first authors and co-corresponding authors contributed efforts of equal substance throughout the research process. The choice of these researchers as co-first authors or co-corresponding authors acknowledges and respects this equal contribution, while recognizing the spirit of teamwork and collaboration of this study. In summary, we believe that designating Kong MW and Li YJ as co-first authors, and Li J and He GX as co-corresponding authors is fitting for our manuscript as it accurately reflects our team’s collaborative spirit, equal contributions, and diversity.
Informed consent statement: Written informed consent was obtained from the patient’s parents for publication of the study.
Conflict-of-interest statement: The authors declare that they have no competing interests to disclose.
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: Jun Li, MD, Doctor, Department of Cardiology, Guiqian International General Hospital, No. 1 Dongfeng Avenue, Wudang Distract, Guiyang 550018, Guizhou Province, China. 492847537@qq.com
Received: September 6, 2023
Peer-review started: September 6, 2023
First decision: September 20, 2023
Revised: September 27, 2023
Accepted: October 27, 2023
Article in press: October 27, 2023
Published online: November 26, 2023
Abstract
BACKGROUND

Down syndrome, also known as trisomy 21 syndrome, is commonly associated with congenital heart disease, and can often result in early formation of pulmonary hypertension. The development of pulmonary hypertension can result from factors such as intracardiac and macrovascular shunts, and upper airway obstruction or hypoplasia of lung tissue. Individuals with Down syndrome and congenital heart disease have a significantly lower average life expectancy, with surgical intervention being the most viable treatment option to improve longevity.

CASE SUMMARY

We report the case of a 13-year-old boy with Down syndrome presenting with atrial septal defect and patent ductus arteriosus along with severe pulmonary hypertension. The electrocardiogram shows sinus rhythm and right ventricular hypertrophy. The echocardiogram shows an atrial septal defect with interrupted echo in the interatrial septum, measuring 0.813 cm in length. The patient was initially refused to be offered surgical treatment by many hospitals due to the high surgical risk and pulmonary artery resistance. After discussing the patient’s diagnosis and treatment options, we ultimately recommended surgical treatment. However, the patient and their family declined this recommendation and chose to be discharged. During the follow-up period of 6 mo, there were no significant improvements or deteriorations in the patient’s condition.

CONCLUSION

In conclusion, this case highlights the challenges faced by individuals with Down syndrome and congenital heart disease complicated by severe pulmonary hypertension. Timely intervention and a multidisciplinary approach are crucial for improving prognosis and life expectancy. Further research is needed to enhance our understanding and develop effective interventions for this population.

Keywords: Down syndrome, Trisomy 21 syndrome, Atrial septal defect, Pulmonary hypertension, Review, Patent ductus arteriosus, Case report

Core Tip: This case study presents a 13-year-old boy diagnosed with Down syndrome alongside atrial septal defect, patent ductus arteriosus, and severe pulmonary hypertension. A complex condition initially met with surgical treatment denial due to high risks, highlights the significant challenges faced by individuals with Down syndrome and congenital heart disease. This case highlights the discussion and educational value surrounding the decision to undergo surgery in complex congenital heart diseases. The educational value lies in the diagnostic and therapeutic approaches demonstrated by our team. Due to the relatively common occurrence of this case in the field of cardiology, our decision-making process holds significant value and applicability.