Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation.
- Author:
Dae Won SOHN
1
;
Hyung Kwan KIM
;
Yong Jin KIM
;
Seil OH
;
Moon Woo SEONG
;
Sung Sup PARK
Author Information
- Publication Type:Case Report
- Keywords: Hypertrophic cardiomyopathy; Left ventricular non-compaction; Restrictive cardiomyopathy; TNNI3
- MeSH: Cardiomyopathies*; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Restrictive; Humans; Sarcomeres; Troponin*
- From:Korean Circulation Journal 2017;47(3):413-417
- CountryRepublic of Korea
- Language:English
- 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.
