CORRESPONDENCE: LETTERS TO THE EDITOR
Frequency of Cardiac Troponin I Mutations in Families With Hypertrophic Cardiomyopathy in China
Tsung O. Cheng, MD, FACC*
* Department of Medicine, The George Washington University, 2150 Pennsylvania Ave. NW, Washington, DC 20037 (Email: cheng{at}mfa.gwu.edu).
I read with interest the recent study on the frequency of cardiac troponin I (cTnI) mutations in families with hypertrophic cardiomyopathy (HCM) reported from the United Kingdom (1). It is amazing to note that the prevalence of cTnI mutations in the United Kingdom (3.1%) is almost identical to that in China (3%) (2).
My colleagues from Nanjing (formerly Nanking), China (2), studied 71 patients with HCM, 45 male and 26 female, ranging in age from 10 to 77 years (average age, 45.5 ± 17.2 years). Exons 7 and 8 of cTnI gene of the 71 patients and 100 normal controls were amplified by polymerase chain reaction (PCR), and the products of PCR were analyzed by direct sequencing. Two mutations of cTnI were identified in 71 patients with HCM (3%) but not in the normal controls. Pedigree investigation showed another carrier in each family: the cTnIR145W mutation carrier had no clinical abnormalities, and the cTnIR162Q carrier had atrial fibrillation when he was in his 20s. Further animal work using recombinant cTnIR145W transduction into cultured mouse adult cardiomyocytes is in progress (2).
Therefore, as Maron (3) recently noted, HCM is indeed an important global disease. Not only is the prevalence of HCM in China (0.16%) (4,5) almost the same as in the Western world (0.2%, according to the Coronary Artery Risk Development In Young Adults [CARDIA] study [6]), but the frequency rates of cTnI mutations are the same (3%) (1,2). This low frequency is consistent with that reported from other countries (<5%) (5,7).
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1. Mogensen J, Murphy RT, Kubo T, et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy J Am Coll Cardiol 2004;44:2315-2325.[Abstract/Free Full Text]
2. Wu H, Wan W, Yang D, Zhang J. Cardiac troponin I mutations in 71 Chinese patients with hypertrophic cardiomyopathy Clin Cardiol 2004;27(Suppl VI):VI81.
3. Maron BJ. Hypertrophic cardiomyopathyan important global disease. Am J Med 2004;116:63-65.[CrossRef][Web of Science][Medline]
4. Zou Y, Song L, Wang Z, et al. Prevalence of idiopathic hypertrophic cardiomyopathy in Chinaa population-based echocardiographic analysis of 8080 adults. Am J Med 2004;116:14-18.[CrossRef][Web of Science][Medline]
5. Cheng TO. Prevalence of hypertrophic cardiomyopathy in China Chin Med J 2004;117:1600.[Medline]
6. Maron BJ, Gardin JM, Flack JM, et al. Prevalence of hypertrophic cardiomyopathy in a general population of young adultsechocardiographic analysis of 4111 subjects in the CARDIA study. Circulation 1995;92:785-789.[Abstract/Free Full Text]
7. Van Driest SL, Ellsworth EG, Ommen SR, Tajik AJ, Gersh BJ, Ackerman MJ. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy Ciculation 2003;108:445-451.
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