Clinical Features of Hypertrophic Cardiomyopathy Caused by a Lys183 Deletion Mutation in the Cardiac Troponin I Gene
作者： Hiromasa Kokado , Masami Shimizu , Hiroyuki Yoshio , Hidekazu Ino , Kazuyasu Okeie
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摘要: Background—Mutations that cause hypertrophic cardiomyopathy (HCM) have been identified in 9 genes code proteins the sarcomere. Previous reports demonstrated cardiac troponin I (cTnI) gene mutations may account for familial HCM; however, clinical characteristics and prognosis of patients with HCM caused by cTnI are not known. Methods Results—We analyzed 130 unrelated probands their families to clarify genotype-phenotype correlations. We 25 individuals 7 a Lys183 deletion (Lys183 del) mutation exon gene. The disease penetrance subjects aged >20 years was 88% echocardiography 96% ECG. Sudden death occurred 4 at any age. Overall, (43.8%) 16 >40 had left ventricular systolic dysfunction, 3 (18.8%) displayed dilated cardiomyopathy-like features. Of affected individuals, 5 followed by...
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