Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Mar 6, 2020; 8(5): 995-1001
Published online Mar 6, 2020. doi: 10.12998/wjcc.v8.i5.995
Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report
Xue-Qi Pan, Xue-Li Chang, Wei Zhang, Hua-Xing Meng, Jing Zhang, Jia-Ying Shi, Jun-Hong Guo
Xue-Qi Pan, Xue-Li Chang, Wei Zhang, Hua-Xing Meng, Jing Zhang, Jia-Ying Shi, Jun-Hong Guo, Department of Neurology, Frist Hospital of Shanxi Medical University, Taiyuan 030001, Shanxi Province, China
Author contributions: Pan XQ and Chang XL contributed equally to this work.
Informed consent statement: The patient and her family provided written informed consent to have her case and accompanying images published.
Conflict-of-interest statement: The authors report no conflict of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016). 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: Jun-Hong Guo, PhD, Doctor, Professor, Department of Neurology, Frist Hospital of Shanxi Medical University, No. 85, Jiefangnan Road, Yingze Disrict, Taiyuan 030001, Shanxi Province, China. neuroguo123@126.com
Received: November 26, 2019
Peer-review started: November 26, 2019
First decision: December 30, 2019
Revised: January 8, 2020
Accepted: February 15, 2020
Article in press: February 15, 2020
Published online: March 6, 2020
Abstract
BACKGROUND

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion. Late-onset MADD with syncope has not been reported previously.

CASE SUMMARY

We report a 17-year-old girl with exercise intolerance and muscle weakness. She felt palpitation and shortness of breath after short bouts of exercise. She also suffered from a transient loss of consciousness many times. Muscle biopsy showed lipid storage. Genetic mutation analysis indicated a compound heterozygous mutation c.250G > A (p.A84T) and c.872T > G (p.V291G) in the ETFDH gene. The results of Holter electrocardiogram monitoring showed supraventricular tachycardia when the patient experienced a loss of consciousness. After treatment with riboflavin and carnitine, muscle weakness and palpitation symptoms improved rapidly. No loss of consciousness occurred, and the Holter electrocardiogram monitoring was normal.

CONCLUSION

Late-onset MADD with supraventricular tachycardia can cause cardiac syncope. Carnitine and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac syncope. Attention should be paid to the prevention of cardiac syncope when diagnosing late-onset MADD.

Keywords: Late-onset multiple acyl-CoA dehydrogenase deficiency, ETFDH, Cardiac syncope, Supraventricular tachycardia, Mitochondrion, Carnitine, Case report

Core tip: Multiple acyl-CoA dehydrogenase deficiency (MADD) is an uncommon autosomal recessive disorder of mitochondrial fatty acid beta-oxidation. Syncope is a transient loss of consciousness due to acute global cerebral hypoperfusion. Late-onset MADD with syncope has not been reported previously. Here, we present a case of late-onset MADD with cardiac syncope, which suggested that we should pay attention to the monitoring of cardiac function and the prevention of cardiac syncope when we diagnose and treat late-onset MADD. Carnitine and riboflavin supplement were beneficial for treating the late-onset MADD with cardiac syncope.