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.
Highlights
Primary carnitine deficiency (PCD) not treated with L-Carnitine can lead to sudden cardiac death1,2
There were no differences between the groups of subjects with regards to age, sex, body mass index (BMI) and plasma L-carnitine (Table 1)
A > G homozygous patient had subendocardial late gadolinium enhancement (LGE) (50% transmurality) in the anterior segments, the pattern was consistent with his history of previous myocardial infarction, and was not included in the analysis
Summary
Primary carnitine deficiency (PCD) not treated with L-Carnitine can lead to sudden cardiac death. PCD is an autosomal recessive disorder of fatty acid oxidation caused by a dysfunctional organic carnitine (OCTN2) transporter. PCD can cause lethal cardiac arrhythmia current treatment strategy does not include the use of an implantable cardioverter defibrillator (ICD) as primary prophylaxis. It is unknown if asymptomatic patients treated with L-Carnitine could still be susceptible to cardiac arrhythmia because of undiagnosed myocardial damage and fibrosis due to carnitine deficiency. The aim of this study was to evaluate and compare cardiac function and myocardial scarring as late gadolinium enhancement with CMR in PCD patients with carriers and healthy subjects in order to assess if current prophylactic treatment strategy should be reevaluated
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