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KMID : 0368120170470030413
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Korean Circulation Journal
2017 Volume.47 No. 3 p.413 ~ p.417
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Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation
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Sohn Dae-Won
Kim Hyung-Kwan
Kim Yong-Jin
Oh Se-Il
Seong Moon-Woo
Park Sung-Sup
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Abstract
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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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KEYWORD
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Hypertrophic cardiomyopathy, Left ventricular non-compaction, Restrictive cardiomyopathy, TNNI3
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