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世界核心医学期刊文摘（心脏病学分册） 2005年第6期1卷 27-28页

作者： Arad M. Maron B.J. Gorham J.M. J.G.Seidman 郭战宏 Dr.Department of Genetics NRB Harvard Medical School 77 Ave. Louis Pasteur Boston MA 02115 United States

BACKGROUND: Unexplained left ventricular hypertrophy often prompts the diagnosis of hypertrophic cardiomyopathy, a sarcomere-protein gene disorder. Because mutations in the gene for AMP-activated protein kinase γ2(PRKAG2) cause an accumulation of cardiac glycogen and left ventricular hypertrophy that mimics hypertrophic cardiomyopathy, we hypothesized that hypertrophic cardiomyopathy might also be clinically misdiagnosed in patients with other mutations in genes regulating glycogen metabolism. METHODS: Genetic analyses performed in 75 consecutive unrelated patients with hypertrophic cardiomyopathy detected 40 sarcomere-protein mutations. In the remaining 35 patients, PRKAG2, lysosome-associated membrane protein 2(LAMP2), α-galactosidase(GLA), and acid α-1,4-glucosidase(GAA) genes were studied. RESULTS: Gene defects causing Fabry’s disease(GLA) and Pompe’s disease(GAA) were not found, but two LAMP2 and one PRKAG2 mutations were identified in probands with prominent hypertrophy and electrophysiological abnormalities. These results prompted the study of two additional, independent series of patients. Genetic analyses of 20 subjects with massive hypertrophy(left ventricular wall thickness, >30 mm) but without electrophysiological abnormalities revealedmutations in neither LAMP2 nor PRKAG2. Genetic analyses of 24 subjects with increased left ventricular wall thickness and electrocardiograms suggesting ventricular preexcitation revealed four LAMP2 and seven PRKAG2 mutations. Clinical features associated with defects in LAMP2 included male sex, severe hypertrophy, early onset(at 8 to 17 years of age), ventricular preexcitation, and asymptomatic elevations of two serum proteins. CONCLUSIONS: LAMP2 mutations typically cause multisystem glycogen-storage disease(Danon’s disease) but can also present as a primary cardiomyopathy. The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiolo

关键词：肥厚型心肌病糖原贮积病肌小节蛋白基因原发性心肌病室壁厚度左室肥厚 α半乳糖苷酶生理异常基因分析基因缺陷

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