Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
Journal of Cardiovascular Ultrasound
; : 324-328, 2016.
Article
em En
| WPRIM
| ID: wpr-80171
Biblioteca responsável:
WPRO
ABSTRACT
A 71-year-old female who was diagnosed with nonobstructive hypertrophic cardiomyopathy since 1999 presented with dyspnea and severe edema on both legs. For the management of her symptom, cardiac surgery including tricuspid annuloplasty, Maze operation and right atrial reduction plasty was performed. During follow-up after cardiac surgery, a plasma α-galactosidase activity was checked for the screening of Fabry disease and the result was around lower normal limit. DNA analysis was implemented for confirmation and it revealed a heterozygote α-galactosidase mutation at exon 6 [c.901C>T (p.Arg301Ter)]. This case suggests that Fabry disease might be easily undetected, and clinical suspicion is critical.
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Plasma
/
Cirurgia Torácica
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Insuficiência da Valva Tricúspide
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Cardiomiopatia Hipertrófica
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DNA
/
Programas de Rastreamento
/
Éxons
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Seguimentos
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Doença de Fabry
/
Dispneia
Tipo de estudo:
Observational_studies
/
Prognostic_studies
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Screening_studies
Limite:
Aged
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Female
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Humans
Idioma:
En
Revista:
Journal of Cardiovascular Ultrasound
Ano de publicação:
2016
Tipo de documento:
Article