Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
, 9 (1), 13909

Cardiac Function and Incidence of Unexplained Myocardial Scarring in Patients With Primary Carnitine Deficiency - A Cardiac Magnetic Resonance Study


Cardiac Function and Incidence of Unexplained Myocardial Scarring in Patients With Primary Carnitine Deficiency - A Cardiac Magnetic Resonance Study

Kasper Kyhl et al. Sci Rep.


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.

Conflict of interest statement

The authors declare no competing interests.


Figure 1
Figure 1
Cardiac magnetic resonance (CMR) examples of cardiac fibrosis involvement in primary carnitine deficiency (PCD). Arrows shows late gadelineum involvement representing cardiac fibrosis.
Figure 2
Figure 2
Plots showing the relation between (A) left ventricular end diastolic volume (LVEDV) and plasma carnitine levels (p-carnitine), (B) left ventricular end systolic volume (LVESV) and plasma carnitine levels (p-carnitine) and (C) left ventricular ejection fraction (LVEF) and plasma carnitine levels (p-carnitine). (D) left ventricular mass (LV mass) and plasma carnitine levels (p-carnitine). c.95 A > G carriers, heterozygote; c.95 A > G/RH, haplozygote; c.95 A > G/c.95 A > G, homozygote.

Similar articles

See all similar articles


    1. Stanley CA. Carnitine deficiency disorders in children. Ann. N. Y. Acad. Sci. 2004;1033:42–51. doi: 10.1196/annals.1320.004. - DOI - PubMed
    1. Cederbaum SD, et al. Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Mol. Genet. Metab. 2002;77:195–201. doi: 10.1016/S1096-7192(02)00169-5. - DOI - PubMed
    1. Rasmussen J, et al. Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. J. Inherit. Metab. Dis. 2014;37:215–222. doi: 10.1007/s10545-013-9606-2. - DOI - PubMed
    1. Lund AM, et al. Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. J. Inherit. Metab. Dis. 2007;30:341–349. doi: 10.1007/s10545-007-0527-9. - DOI - PubMed
    1. O’Hanlon R, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2010;56:867–874. doi: 10.1016/j.jacc.2010.05.010. - DOI - PubMed