Abstract
Objective To investigate the relationship between ultrasonographic feature and molecular biology marker in hypertrophic of Danon disease. Methods The changes of ultrasonographic and molecular biological indexes in 3 patients with myocardial hypertrophy of Danon disease were observed, in order to provide the treatment basis for the clinical. Results Echocardiography showed ventricular septum and left ventricular wall hypertrophy in male patient, supported the diagnosis of hypertrophic cardiomyopathy. Electrocardiograph showed myocardial hypertrophy, ventricular preexcitation syndrome(type B). The serum creatine kinase, creatine kinase isoenzyme, lactate dehydrogenase and alanine aminotransferase were gradually increased. While the electrocardiogram of female patients showed: Ⅱ, Ⅲ, aVF, Ⅴ1-5 lead ST segment depression, T wave inversion or negative positive two-way, and echocardiography and serum examination had no significant change. LAMP2 genetic testing in male patient found that Exon 3 missing two bases C, definite diagnosis of Danon disease, and the female patients was gene mutation carriers. Conclusions Danon disease is a rare fatal genetic disease, with the extension of time, the myocardial thickness and molecular biology indexes of male patients gradually increased. Key words: Lysosomal diseases; Danon disease; LAMP2 genes; Hypertrophic cardiomyopathy
Published Version
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