PMID- 31558765
OWN - NLM
STAT- MEDLINE
DCOM- 20201027
LR  - 20210110
IS  - 2045-2322 (Electronic)
IS  - 2045-2322 (Linking)
VI  - 9
IP  - 1
DP  - 2019 Sep 26
TI  - Cardiac function and incidence of unexplained myocardial scarring in patients 
      with primary carnitine deficiency - a cardiac magnetic resonance study.
PG  - 13909
LID - 10.1038/s41598-019-50458-9 [doi]
LID - 13909
AB  - 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.
FAU - Kyhl, Kasper
AU  - Kyhl K
AUID- ORCID: 0000-0001-6570-1674
AD  - Department of Medicine, The National Hospital, Torshavn, Faroe Islands. 
      kasperkyhl@gmail.com.
AD  - The Cardiac MRI Groups, Departments of Cardiology, Rigshospitalet, Copenhagen, 
      Denmark. kasperkyhl@gmail.com.
FAU - Roin, Tora
AU  - Roin T
AD  - Department of Medicine, The National Hospital, Torshavn, Faroe Islands.
FAU - Lund, Allan
AU  - Lund A
AD  - Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical 
      Genetics, Rigshospitalet, Copenhagen, Denmark.
FAU - Vejlstrup, Niels
AU  - Vejlstrup N
AD  - The Cardiac MRI Groups, Departments of Cardiology, Rigshospitalet, Copenhagen, 
      Denmark.
AD  - Department of Cardiology, Rigshospitalet, Copenhagen, Denmark.
FAU - Madsen, Per Lav
AU  - Madsen PL
AD  - Department of Cardiology, Copenhagen University Hospital, Herlev-Gentofte, 
      Copenhagen, Denmark.
AD  - Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.
FAU - Engstrom, Thomas
AU  - Engstrom T
AD  - Department of Cardiology, Rigshospitalet, Copenhagen, Denmark.
AD  - Department of Clinical Medicine, Copenhagen University, Copenhagen, Denmark.
FAU - Rasmussen, Jan
AU  - Rasmussen J
AD  - Department of Medicine, The National Hospital, Torshavn, Faroe Islands.
AD  - Department of Cardiology, Rigshospitalet, Copenhagen, Denmark.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20190926
PL  - England
TA  - Sci Rep
JT  - Scientific reports
JID - 101563288
RN  - 0 (Contrast Media)
RN  - AU0V1LM3JT (Gadolinium)
RN  - S7UI8SM58A (Carnitine)
RN  - Myopathic carnitine deficiency
SB  - IM
MH  - Adult
MH  - Carnitine/*deficiency/genetics
MH  - Cicatrix/diagnostic imaging/*epidemiology
MH  - Contrast Media
MH  - Female
MH  - Gadolinium
MH  - Heart/*diagnostic imaging
MH  - Heterozygote
MH  - Homozygote
MH  - Humans
MH  - *Magnetic Resonance Imaging
MH  - Male
MH  - Middle Aged
MH  - Muscular Diseases/*diagnostic imaging/genetics/pathology
MH  - Mutation
MH  - Myocardium/*pathology
MH  - Ventricular Function
PMC - PMC6763485
COIS- The authors declare no competing interests.
EDAT- 2019/09/29 06:00
MHDA- 2020/10/28 06:00
PMCR- 2019/09/26
CRDT- 2019/09/28 06:00
PHST- 2019/05/13 00:00 [received]
PHST- 2019/09/11 00:00 [accepted]
PHST- 2019/09/28 06:00 [entrez]
PHST- 2019/09/29 06:00 [pubmed]
PHST- 2020/10/28 06:00 [medline]
PHST- 2019/09/26 00:00 [pmc-release]
AID - 10.1038/s41598-019-50458-9 [pii]
AID - 50458 [pii]
AID - 10.1038/s41598-019-50458-9 [doi]
PST - epublish
SO  - Sci Rep. 2019 Sep 26;9(1):13909. doi: 10.1038/s41598-019-50458-9.