Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction.
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.
Davili
Zurab
Z
College of Medicine, SUNY Upstate Medical University, Syracuse, NY, USA.
Johar
Sandeep
S
Hughes
Colleen
C
Kveselis
Daniel
D
Hoo
Joe
J
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*
D013385:Succinate Dehydrogenase