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

نویسندگان

  • Dae-Won Sohn
  • Hyung-Kwan Kim
  • Yong-Jin Kim
  • Seil Oh
  • Moon-Woo Seong
  • Sung-Sup Park
چکیده

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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عنوان ژورنال:

دوره 47  شماره 

صفحات  -

تاریخ انتشار 2017