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Abstract
Primary carnitine deficiency (PCD) not treated with L-Carnitine can lead to sudden cardiac death. To our knowledge, it is unknown if asymptomatic patients treated with L-Carnitine suffer from myocardial scarring and thus be at greater risk of potentially serious arrhythmia. Cardiac evaluation of function and myocardial scarring is non-invasively best supported by cardiac magnetic resonance imaging (CMR) with late gadolinium enhancement (LGE). The study included 36 PCD patients, 17 carriers and 17 healthy subjects. A CMR cine stack in the short-axis plane were acquired to evaluate left ventricle (LV) systolic and diastolic function and a similar LGE stack to evaluate myocardial scarring and replacement fibrosis. LV volumes and ejection fraction were not different between PCD patients, carriers and healthy subjects. However, LV mass was higher in PCD patients with the severe homozygous mutation, c.95 A > G (p = 0.037; n = 17). Among homozygous PCD patients there were two cases of unexplained myocardial scarring and this is in contrast to no myocardial scarring in any of the other study participants (p = 0.10). LV mass was increased in PCD patients. L-carnitine supplementation is essential in order to prevent potentially lethal cardiac arrhythmia and serious adverse cardiac remodeling.
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1 Department of Medicine, The National Hospital, Tórshavn, Faroe Islands; The Cardiac MRI Groups, Departments of Cardiology, Rigshospitalet, Copenhagen, Denmark
2 Department of Medicine, The National Hospital, Tórshavn, Faroe Islands
3 Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Rigshospitalet, Copenhagen, Denmark
4 The Cardiac MRI Groups, Departments of Cardiology, Rigshospitalet, Copenhagen, Denmark; Department of Cardiology, Rigshospitalet, Copenhagen, Denmark
5 Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark
6 Department of Cardiology, Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark
7 Department of Medicine, The National Hospital, Tórshavn, Faroe Islands; Department of Cardiology, Rigshospitalet, Copenhagen, Denmark