Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
Korean Circulation Journal
;
: 413-417, 2017.
Artículo
en Inglés
| WPRIM
| ID: wpr-72829
ABSTRACT
The fact that different types of cardiomyopathies can be manifested by the same sarcomere protein gene mutation in a single family is well known. However, mixed features of different types of cardiomyopathies in a single patient have not been well appreciated. We identified a novel mutation in cardiac troponin I3 (Arg186Gly) in the present case, and two of the family members showed mixed morphologic features of hypertrophic cardiomyopathy and left ventricular non-compaction. Moreover, both the features of cardiomyopathies were not apparent for each type of cardiomyopathy. In the patient's family, four other members had unexpected deaths before the age of 30.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Sarcómeros
/
Troponina
/
Cardiomiopatía Hipertrófica
/
Cardiomiopatía Restrictiva
/
Cardiomiopatías
Límite:
Humanos
Idioma:
Inglés
Revista:
Korean Circulation Journal
Año:
2017
Tipo del documento:
Artículo
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