Korean Circ J.  2017 May;47(3):413-417. 10.4070/kcj.2016.0302.

Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation

• Sohn DW
• Kim HK
• Kim YJ
• Oh S
• Seong MW
• Park SS

• KMID: 2385397
• DOI: http://doi.org/10.4070/kcj.2016.0302

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.

Keyword

Hypertrophic cardiomyopathy; Left ventricular non-compaction; Restrictive cardiomyopathy; TNNI3

MeSH Terms

Cardiomyopathies*
Cardiomyopathy, Hypertrophic
Cardiomyopathy, Restrictive
Humans
Sarcomeres
Troponin*
Troponin