title: Hypertrophic cardiomyopathy in patients with diabetes mellitus associated with mitochondrial tRNA(Leu)(UUR) gene mutation.
abstract: Left ventricular function and morphology were assessed using M-mode echocardiography in 3 patients with diabetes mellitus associated with mitochondrial tRNA(Leu)(UUR) gene mutation, who were free of clinical, electrocardiographic, or thallium scan evidence of ischemic heart disease. Echocardiograms revealed hypertrophic cardiomyopathy in all 3 patients. Hypertrophy of the interventricular septum was mild in Cases 1 and 3 (12 and 13 mm, respectively) and severe in Case 2 (22 mm) (normal 7-10 mm). When they had neither signs nor symptoms suggestive of congestive heart failure, percentage fractional shortening (%FS), an index of wall motion of the left ventricle (normal > 28%), was normal in Cases 2 and 3 (28 and 32%, respectively) whereas it was slightly decreased in Case 1 (22%). In Case 1 with mild hypertrophy, the development of congestive heart failure was associated with a marked decrease in %FS to 13%; this patient responded well to diuretics and captopril and %FS rose to 22%. However, a mild decrease in %FS to 21% caused congestive heart failure in Case 2 with severe hypertrophy. His response to treatment was marginal. The present study indicates that mitochondrial DNA analysis should be done in patients with diabetic cardiomyopathy, and that sequential echocardiography is invaluable for the detection of hypertrophic cardiomyopathy and the management of subsequent myocardial dysfunction in patients with mitochondrial diabetes mellitus and cardiomyopathy.
authors.affiliation: Division of Endocrinology and Metabolism, Hyogo Medical Center for Adults.
authors.forename: R
authors.initials: R
authors.lastname: Yoshida
authors.forename: Y
authors.initials: Y
authors.lastname: Ishida
authors.forename: K
authors.initials: K
authors.lastname: Abo
authors.forename: T
authors.initials: T
authors.lastname: Hozumi
authors.forename: H
authors.initials: H
authors.lastname: Ueno
authors.forename: H
authors.initials: H
authors.lastname: Shiotani
authors.forename: M
authors.initials: M
authors.lastname: Kishimoto-Hashiramoto
authors.forename: M
authors.initials: M
authors.lastname: Hashiramoto
authors.forename: K
authors.initials: K
authors.lastname: Matsunaga
authors.forename: M
authors.initials: M
authors.lastname: Kasuga
mesh_terms: D000328:Adult; D000368:Aged; D002312:Cardiomyopathy, Hypertrophic / Q000000981:diagnostic imaging / Q000235:genetics*; D004272:DNA, Mitochondrial / Q000032:analysis / Q000235:genetics*; D003925:Diabetic Angiopathies / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012346:RNA, Transfer, Amino Acyl / Q000235:genetics*; D014463:Ultrasonography
chemical_list: D004272:DNA, Mitochondrial; D012346:RNA, Transfer, Amino Acyl