Literature DB >> 17082968

Succinate dehydrogenase deficiency associated with dilated cardiomyopathy and ventricular noncompaction.

Zurab Davili1, Sandeep Johar, Colleen Hughes, Daniel Kveselis, Joe Hoo.   

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.

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Year:  2006        PMID： 17082968     DOI： 10.1007/s00431-006-0310-1

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  10 in total

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Review 8.  The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases.

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  7 in total

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