Article
Clinical features of hypertrophic cardiomyopathy caused by a Lys183 deletion mutation in the cardiac troponin I gene.
Circulation - 8 Aug 2000
Kokado H, Shimizu M, Yoshio H, Ino H, Okeie K, Emoto Y, Matsuyama T, Yamaguchi M, Yasuda T, Fujino N, Ito H, Mabuchi H
Abstract excerpt
BACKGROUND: Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes that code proteins in the sarcomere. Previous reports have demonstrated that cardiac troponin I (cTnI) gene mutations may account for familial HCM; however, the clinical characteristics and prognosis of patients with HCM caused by cTnI gene mutations are not known. METHODS AND RESULTS: We analyzed cTnI gene...
Topics
- Adolescent
- Adult
- Aged
- Base Sequence
- Cardiomyopathy, Hypertrophic
- Child
- Child, Preschool
- Death, Sudden, Cardiac
- Echocardiography
- Electrocardiography
- Female
