Late-onset multiple acyl-CoA dehydrogenase deficiency with cardiac syncope: A case report.
Cardiac syncope
Carnitine
Case report
ETFDH
Late-onset multiple acyl-CoA dehydrogenase deficiency
Mitochondrion
Supraventricular tachycardia
Journal
World journal of clinical cases
ISSN: 2307-8960
Titre abrégé: World J Clin Cases
Pays: United States
ID NLM: 101618806
Informations de publication
Date de publication:
06 Mar 2020
06 Mar 2020
Historique:
received:
26
11
2019
revised:
08
01
2020
accepted:
15
02
2020
entrez:
20
3
2020
pubmed:
20
3
2020
medline:
20
3
2020
Statut:
ppublish
Résumé
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. 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 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.
Sections du résumé
BACKGROUND
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
METHODS
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
CONCLUSION
CONCLUSIONS
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.
Identifiants
pubmed: 32190638
doi: 10.12998/wjcc.v8.i5.995
pmc: PMC7062611
doi:
Types de publication
Case Reports
Langues
eng
Pagination
995-1001Informations de copyright
©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
Déclaration de conflit d'intérêts
Conflict-of-interest statement: The authors report no conflict of interest.
Références
Prog Lipid Res. 2018 Oct;72:1-17
pubmed: 30099045
Mol Genet Metab. 2017 Dec;122(4):182-188
pubmed: 29122468
Life Sci. 2018 Feb 1;194:88-97
pubmed: 29241711
J Inherit Metab Dis. 2014 May;37(3):399-404
pubmed: 24357026
Circulation. 1999 Nov 30;100(22):2248-53
pubmed: 10577999
Clin Genet. 2010 Dec;78(6):565-9
pubmed: 20370797
JIMD Rep. 2018;38:33-40
pubmed: 28456887
Am J Cardiol. 1984 Mar 1;53(6):731-7
pubmed: 6702621
Hum Mutat. 2003 Jul;22(1):12-23
pubmed: 12815589
J Neurochem. 2018 May;145(4):323-341
pubmed: 29424033
J Interv Card Electrophysiol. 2013 Sep;37(3):249-58
pubmed: 23824789
N Engl J Med. 2000 Dec 21;343(25):1856-62
pubmed: 11117979
Biosci Rep. 2015 Nov 20;36(1):e00281
pubmed: 26589966
Nat Rev Neurol. 2009 Aug;5(8):438-48
pubmed: 19597513
J Hum Genet. 2014 May;59(5):256-61
pubmed: 24522293
Eur Heart J. 2009 Nov;30(21):2631-71
pubmed: 19713422
J Cardiovasc Electrophysiol. 2017 Sep;28(9):1088-1097
pubmed: 28776824
Neurol Sci. 2015 Jun;36(6):853-9
pubmed: 25827849
Am J Hum Genet. 2016 Jun 2;98(6):1130-1145
pubmed: 27259049
J Child Neurol. 2010 Aug;25(8):954-60
pubmed: 20023066
Lancet. 2019 Feb 16;393(10172):689-701
pubmed: 30686584
Brain. 2007 Aug;130(Pt 8):2045-54
pubmed: 17584774
Trends Cardiovasc Med. 2009 May;19(4):111-8
pubmed: 19818946