title: Dilated cardiomyopathy: a preventable presentation of DiGeorge Syndrome.
abstract: Patients with cardiac failure require careful evaluation to determine the precise nature of the cause of their illness. Genetic causes of dilated cardiomyopathy are well known but inherited conditions may lead to unexpected consequences through intermediate mechanisms not readily recognised as a feature of the inherited disorder. We describe a case of dilated cardiomyopathy resulting from prolonged hypocalcaemia due to previously undiagnosed hypoparathyroidism resulting from DiGeorge Syndrome and describe the features of this case and the treatment of hypoparathyroidism.
authors.affiliation: A Jamieson, Medical Unit, St John's Hospital, Howden S Road, Livingston EH54 6PP, UK. Email andrew.x.jamieson@nhslothian.scot.nhs.uk.
authors.forename: A
authors.initials: A
authors.lastname: Jamieson
authors.forename: C J
authors.initials: CJ
authors.lastname: Smith
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000209:etiology* / Q000517:prevention & control; D004062:DiGeorge Syndrome / Q000150:complications* / Q000175:diagnosis; D006801:Humans; D006996:Hypocalcemia / Q000209:etiology; D007011:Hypoparathyroidism / Q000150:complications*; D008297:Male; D008875:Middle Aged
keywords: cardiac failure; genetics; hypocalcaemia