Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
Korean Circulation Journal
; : 413-417, 2017.
Article
in En
| WPRIM
| ID: wpr-72829
Responsible library:
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Sarcomeres
/
Troponin
/
Cardiomyopathy, Hypertrophic
/
Cardiomyopathy, Restrictive
/
Cardiomyopathies
Limits:
Humans
Language:
En
Journal:
Korean Circulation Journal
Year:
2017
Type:
Article