Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy
A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardi...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Cardiology |
| Online Access: | http://dx.doi.org/10.1155/2018/3232105 |
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| _version_ | 1850231008479150080 |
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| author | Stephen Tomlinson John Atherton Sandhir Prasad |
| author_facet | Stephen Tomlinson John Atherton Sandhir Prasad |
| author_sort | Stephen Tomlinson |
| collection | DOAJ |
| description | A 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardiography demonstrated severe left ventricular dilation (104 ml/m2) (normal < 76 ml/m2) with moderate systolic dysfunction (ejection fraction 40%) and severe right ventricular dilation with mild systolic dysfunction. Carnitine replacement was commenced, and a cardiac magnetic resonance imaging (MRI) performed five days later demonstrated dramatic improvement in biventricular function with normalization of left and right ventricular systolic function. To our knowledge, this is only the second case describing the rapid reversal of cardiomyopathy in an adult patient with this rare condition. |
| format | Article |
| id | doaj-art-0662c3ea34874a3ab86d6b16822cffaa |
| institution | OA Journals |
| issn | 2090-6404 2090-6412 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Cardiology |
| spelling | doaj-art-0662c3ea34874a3ab86d6b16822cffaa2025-08-20T02:03:40ZengWileyCase Reports in Cardiology2090-64042090-64122018-01-01201810.1155/2018/32321053232105Primary Carnitine Deficiency: A Rare, Reversible Metabolic CardiomyopathyStephen Tomlinson0John Atherton1Sandhir Prasad2Department of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, AustraliaDepartment of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, AustraliaDepartment of Cardiology, Royal Brisbane and Women’s Hospital, Cnr Butterfield St and Bowen Bridge Road, Herston, QLD 4029, AustraliaA 24-year-old female with a diagnosis of primary carnitine deficiency, a rare inherited metabolic disorder predominantly described in the paediatric literature that causes cardiomyopathy, presented for evaluation after three months of nonadherence with prescribed carnitine therapy. Initial echocardiography demonstrated severe left ventricular dilation (104 ml/m2) (normal < 76 ml/m2) with moderate systolic dysfunction (ejection fraction 40%) and severe right ventricular dilation with mild systolic dysfunction. Carnitine replacement was commenced, and a cardiac magnetic resonance imaging (MRI) performed five days later demonstrated dramatic improvement in biventricular function with normalization of left and right ventricular systolic function. To our knowledge, this is only the second case describing the rapid reversal of cardiomyopathy in an adult patient with this rare condition.http://dx.doi.org/10.1155/2018/3232105 |
| spellingShingle | Stephen Tomlinson John Atherton Sandhir Prasad Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy Case Reports in Cardiology |
| title | Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy |
| title_full | Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy |
| title_fullStr | Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy |
| title_full_unstemmed | Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy |
| title_short | Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy |
| title_sort | primary carnitine deficiency a rare reversible metabolic cardiomyopathy |
| url | http://dx.doi.org/10.1155/2018/3232105 |
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