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, 9 (1), 13909

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

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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.

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.

Conflict of interest statement

The authors declare no competing interests.

Figures

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.

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