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Septal wall thinning and systolic dysfunction in patients with hypertrophic cardiomyopathy caused by a cardiac troponin I gene mutation

Background Lysine 183 deletion in the cardiac troponin I gene is 1 of the mutations that causes hypertrophic cardiomyopathy (HCM). However, the clinical course and determinants of poor prognosis in patients with this mutation have not been well established. Methods and Results We analyzed 10 proband...

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Bibliographic Details
Published in:The American heart journal 2002-04, Vol.143 (4), p.690-695
Main Authors: Shimizu, Masami, Ino, Hidekazu, Okeie, Kazuyasu, Yamaguchi, Masato, Hayashi, Kenshi, Nagata, Mitsuru, Itoh, Hideki, Iwaki, Taku, Oe, Kotaro, Konno, Tetsuo, Mabuchi, Hiroshi
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Language:English
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Summary:Background Lysine 183 deletion in the cardiac troponin I gene is 1 of the mutations that causes hypertrophic cardiomyopathy (HCM). However, the clinical course and determinants of poor prognosis in patients with this mutation have not been well established. Methods and Results We analyzed 10 probands with HCM caused by this mutation and their family members. Forty-six of these 79 subjects were found to be carriers, and 33 were non-carriers. All non-carriers had a percent fractional shortening (%FS) of >25% at all ages. By contrast, 7 of 24 carriers >40 years of age had a %FS of
ISSN:0002-8703
1097-6744
DOI:10.1067/mhj.2002.120291