Fabry Disease Presenting with Hypertrophic Cardiomyopathy and Tricuspid Regurgitation
Journal of Cardiovascular Ultrasound
;
: 324-328, 2016.
Artículo
en Inglés
| WPRIM
| ID: wpr-80171
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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Plasma
/
Cirugía Torácica
/
Insuficiencia de la Válvula Tricúspide
/
Cardiomiopatía Hipertrófica
/
ADN
/
Tamizaje Masivo
/
Exones
/
Estudios de Seguimiento
/
Enfermedad de Fabry
/
Disnea
Tipo de estudio:
Estudio observacional
/
Estudio pronóstico
/
Estudio de tamizaje
Límite:
Anciano
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Journal of Cardiovascular Ultrasound
Año:
2016
Tipo del documento:
Artículo
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