title: Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction.
abstract: We report a case of a 6-week-old male who was admitted to the hospital for respiratory distress. An echocardiogram revealed a poorly functioning left ventricle with an ejection fraction of 18% and dilated cardiomyopathy with noncompaction of the left ventricle. A muscle biopsy was performed to identify the cause of his cardiomyopathy, which revealed succinate dehydrogenase deficiency. The patient was medically managed for dilated cardiomyopathy and eventually died due to congestive heart failure.
authors.affiliation: College of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.
authors.forename: Zurab
authors.initials: Z
authors.lastname: Davili
authors.forename: Sandeep
authors.initials: S
authors.lastname: Johar
authors.forename: Colleen
authors.initials: C
authors.lastname: Hughes
authors.forename: Daniel
authors.initials: D
authors.lastname: Kveselis
authors.forename: Joe
authors.initials: J
authors.lastname: Hoo
mesh_terms: D001706:Biopsy; D002311:Cardiomyopathy, Dilated / Q000000981:diagnostic imaging / Q000209:etiology*; D004452:Echocardiography; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D018482:Muscle, Skeletal / Q000201:enzymology; D013385:Succinate Dehydrogenase / Q000172:deficiency*; D018487:Ventricular Dysfunction, Left / Q000000981:diagnostic imaging / Q000209:etiology*
chemical_list: D013385:Succinate Dehydrogenase