Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
Korean Circulation Journal
; : 413-417, 2017.
Article
em En
| WPRIM
| ID: wpr-72829
Biblioteca responsável:
WPRO
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.
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Texto completo:
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Índice:
WPRIM
Assunto principal:
Sarcômeros
/
Troponina
/
Cardiomiopatia Hipertrófica
/
Cardiomiopatia Restritiva
/
Cardiomiopatias
Limite:
Humans
Idioma:
En
Revista:
Korean Circulation Journal
Ano de publicação:
2017
Tipo de documento:
Article