Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy
Joint Authors
Prasad, Sandhir B.
Tomlinson, Stephen
Atherton, John
Source
Issue
Vol. 2018, Issue 2018 (31 Dec. 2018), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2018-09-13
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Tomlinson, Stephen& Atherton, John& Prasad, Sandhir B.. 2018. Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy. Case Reports in Cardiology،Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1137313
Modern Language Association (MLA)
Tomlinson, Stephen…[et al.]. Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy. Case Reports in Cardiology No. 2018 (2018), pp.1-3.
https://search.emarefa.net/detail/BIM-1137313
American Medical Association (AMA)
Tomlinson, Stephen& Atherton, John& Prasad, Sandhir B.. Primary Carnitine Deficiency: A Rare, Reversible Metabolic Cardiomyopathy. Case Reports in Cardiology. 2018. Vol. 2018, no. 2018, pp.1-3.
https://search.emarefa.net/detail/BIM-1137313
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1137313