Liao HY, Shi XQ, Li YF. Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report. World J Clin Cases 2020; 8(6): 1137-1141 [PMID: 32258084 DOI: 10.12998/wjcc.v8.i6.1137]
Corresponding Author of This Article
Yi-Fei Li, MD, Associate Professor, Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu 610041, Sichuan Province, China. liyfwcsh@scu.edu.cn
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 Clin Cases. Mar 26, 2020; 8(6): 1137-1141 Published online Mar 26, 2020. doi: 10.12998/wjcc.v8.i6.1137
Metabolic and genetic assessments interpret unexplained aggressive pulmonary hypertension induced by methylmalonic acidemia: A case report
Hong-Yu Liao, Xiao-Qing Shi, Yi-Fei Li
Hong-Yu Liao, Xiao-Qing Shi, Yi-Fei Li, Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China
Author contributions: Liao H and Shi X contributed equally to this work. Shi X and Li Y were the patient’s physician. All the authors reviewed the literature and contributed to manuscript drafting; Shi X interpreted the metabolic screening and genetic sequence results. Li Y conceptualized and designed the study, coordinated and supervised data collection, and critically reviewed the manuscript for important intellectual content. Liao H, Shi X and Li Y were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: Informed written consents were obtained from the patients 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: Yi-Fei Li, MD, Associate Professor, Department of Pediatrics and Ministry of Education Key Laboratory of Women and Children's Diseases and Birth Defects, West China Second University Hospital, Sichuan University, No. 20, 3rd section, South Renmin Road, Chengdu 610041, Sichuan Province, China. liyfwcsh@scu.edu.cn
Received: November 14, 2019 Peer-review started: November 14, 2019 First decision: December 23, 2019 Revised: December 31, 2019 Accepted: January 19, 2020 Article in press: January 19, 2020 Published online: March 26, 2020 Processing time: 132 Days and 23.3 Hours
Core Tip
Core tip: This report describes a case who suffered an aggressive pulmonary hypertension (PH) as her first onset manifestation. Following the routine diagnostic and therapeutic procedure, we failed to address any abnormalities which could explain the origins of PH. However, taking the advantage of metabolic screening and genome sequencing, we achieved the diagnosis of methylmalonic acidemia and revealed that the severe PH is secondary to methylmalonic acidemia, which was not mentioned among several guidelines of PH. Although metabolic and genome screenings have been recommended in guideline, this case brought our reconsideration to the timing for perform metabolic and genomic screenings. So that, we would like to mention that for some aggressive unexplained PH patients who meets the criteria, such screening procedure should be applied in an earlier stage to prevent putting the patients into irreversible conditions.
