Cardiac transplantation in an incomplete Kearns-Sayre syndrome with mitochondrial DNA deletion
| Autor: | Christine Tranchant, B. Mousson, Jean-Marie Warter, C. Weess, Michel Mohr, M. Welsch, R. Dumoulin, G. Stepien |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Adult
Cardiomyopathy Dilated Male Mitochondrial DNA medicine.medical_specialty Hearing loss medicine.medical_treatment Kearns-Sayre Syndrome Biology DNA Mitochondrial Polymerase Chain Reaction Kearns–Sayre syndrome Internal medicine medicine Humans Genetics (clinical) Sequence Deletion Heart transplantation medicine.diagnostic_test Myocardium External ophthalmoplegia Dilated cardiomyopathy medicine.disease Transplantation Blotting Southern Microscopy Electron Neurology Pediatrics Perinatology and Child Health Angiography cardiovascular system Cardiology Heart Transplantation Neurology (clinical) medicine.symptom |
| Zdroj: | Neuromuscular Disorders. 3:561-566 |
| ISSN: | 0960-8966 |
| DOI: | 10.1016/0960-8966(93)90116-2 |
| Popis: | A 38-yr-old man with external ophthalmoplegia, cardiac conduction abnormalities, hearing loss, and ragged-red fibres in skeletal muscle biopsy, developed severe signs of cardiac failure within a few months. Echocardiography and angiography demonstrated a dilated cardiomyopathy. Ubiquinone 140 mg day-1 did not stop the worsening of the cardiac status and cardiac transplantation was performed. Molecular analysis showed a heteroplasmic 4.5 kb mitochondrial DNA deletion in endomyocardial tissue. Eighteen months later, cardiac evolution is good and neurological status is stable. |
| Databáze: | OpenAIRE |
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