Kickboxing a cardiomyopathy: mitochondrial sequencing provides answer for young athlete and her family.
BMJ Case Rep
; 14(1)2021 Jan 11.
Article
em En
| MEDLINE
| ID: mdl-33431453
ABSTRACT
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
RNA de Transferência de Leucina
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Taquicardia Ventricular
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Miopatias Mitocondriais
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Antagonistas Adrenérgicos beta
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Cardiomiopatias
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article