Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.
Adrenergic beta-Antagonists
/ therapeutic use
Adult
Cardiomyopathies
/ complications
Coronary Angiography
DNA Mutational Analysis
Diagnosis, Differential
Echocardiography
Female
Genetic Testing
Heart Ventricles
/ diagnostic imaging
Humans
Magnetic Resonance Imaging
Martial Arts
/ physiology
Mitochondrial Myopathies
/ complications
Mutation
RNA, Transfer, Leu
/ genetics
Tachycardia, Ventricular
/ diagnosis
Treatment Outcome
Troponin
/ blood
cardiovascular medicine
genetic screening / counselling
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
11 Jan 2021
11 Jan 2021
Historique:
entrez:
12
1
2021
pubmed:
13
1
2021
medline:
23
2
2021
Statut:
epublish
Résumé
Mitochondrial diseases are rare, often go undiagnosed and can lead to devastating cascades of multisystem organ dysfunction. This report of a young woman with hearing loss and gestational diabetes illustrates a novel presentation of a cardiomyopathy caused by a previously described mutation in a mitochondrial gene, MT-TL1. She initially had biventricular heart dysfunction and ventricular arrhythmia that ultimately recovered with beta blockade and time. She continues to participate in sport without decline. It is important to keep mitochondrial diseases in the differential diagnosis and understand the testing and management strategies in order to provide the best patient care.
Identifiants
pubmed: 33431453
pii: 14/1/e237592
doi: 10.1136/bcr-2020-237592
pmc: PMC7802639
pii:
doi:
Substances chimiques
Adrenergic beta-Antagonists
0
MT-TL1 tRNA, human
0
RNA, Transfer, Leu
0
Troponin
0
Types de publication
Journal Article
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NHGRI NIH HHS
ID : U01 HG006476
Pays : United States
Informations de copyright
© BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
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