title: DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease.
abstract: A 30 year old man with DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness) syndrome associated with myocardial disease is reported. Echocardiographic study revealed a marked symmetric left ventricular hypertrophy. Histology of the endomyocardial biopsy specimen from the right ventricle showed severe glycogen deposition in the myocytes. This case may indicate that DIDMOAD syndrome is a hereditary systemic disease affecting multiple organs, including the myocardium.
authors.affiliation: Second Department of Internal Medicine, Tokyo Medical and Dental University, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Ito
authors.forename: T
authors.initials: T
authors.lastname: Takamoto
authors.forename: M
authors.initials: M
authors.lastname: Nitta
authors.forename: K
authors.initials: K
authors.lastname: Taniguchi
authors.forename: M
authors.initials: M
authors.lastname: Hiroe
authors.forename: M
authors.initials: M
authors.lastname: Sekiguchi
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000150:complications* / Q000473:pathology; D003638:Deafness; D048909:Diabetes Complications; D003919:Diabetes Insipidus / Q000150:complications* / Q000235:genetics; D003920:Diabetes Mellitus / Q000235:genetics; D004699:Endocardium / Q000473:pathology; D006003:Glycogen / Q000378:metabolism; D006801:Humans; D008297:Male; D009206:Myocardium / Q000378:metabolism / Q000473:pathology; D009896:Optic Atrophy / Q000150:complications* / Q000235:genetics; D013577:Syndrome
chemical_list: D006003:Glycogen