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Karnitintrot - kanning av árininum á hjarta og vøddar hjá sjúklingum við CTD.


Jan Rasmussen


Aðrir luttakarar:
Kasper Kyhl, Allan Lund, Morten Dunø, Niels Vejlstrup, Olav W. Nielsen, Lars Køber, Magni Mohr og Guðrið Andorsdóttir


Samlaður kostnaður:

Stuðul úr Granskingargrunninum:

Primary carnitine deficiency (PCD) is an autosomal recessive disorder of fatty acid oxidation. The frequency of the disorder in the Faroe Islands is by far the highest reported in the world, 1:300. In this study we want to investigate if PCD leads to an increased myocardial scarring/fibrosis compared to normal. All PCD patients in the Faroe Islands will be invited to have a cardiac magnetic resonance scan performed in order to uncover possible myocardial scarring/fibrosis. Gender and age matched controls will also be recruited in order to compare the frequency of possible myocardial scarring/fibrosis between patients and controls. We also want to investigate if carnitine level in muscle is low in all PCD genotypes in the Faroe Islands, even though the patients receive high dosage LEcarnitine supplementation. The study is performed in collaboration between the National Hospital in the Faroe Islands, the Faroese University, Rigshospitalet in Denmark and the Faroese Biobank.

Untreated primary carnitine deficiency (PCD) can cause dilated cardiomyopathy, cardiomegaly and cardiac arrest which are all treated with oral carnitine supplements. It is unknown whether myocardial disease is still present in a well-treated PCD population. Cardiac evaluation of function and fibrosis is best investigated by cardiac magnetic resonance imaging (CMR). From a population of PCD patients (homozygote, haplozygote and heterozygote) were studied using CMR and compared to a healthy age and sex matched population. This is the first study to our knowledge, investigating cardiac function of patients suffering from PCD and carriers of PCD using CMR. Some PCD patients have a myocardial late gadolinium hyperenhancement and LV mass was increased in PCD patients. Adherence to recommended L-carnitine supplementation is essential in order to prevent cardiac damage, serious adverse cardiac remodeling and potentially lethal cardiac arrhythmia.


Scientific articles
Cardiac function and incidence of unexplained myocardial scarring in patients with primary carnitine deficiency - a cardiac magnetic resonance study. Kyhl K, Róin T, Lund A, Vejlstrup N, Madsen PL, Engstrøm T, Rasmussen J. Sci Rep. 2019 Sep 26;9(1):13909. doi: 10.1038/s41598-019-50458-9.

Publications outside the scientific community
Poster: Cardiac fibrosis and function in primary carnitine deficiency evaluated by cardiac magnetic resonance. Kasper Kyhl, Jan Rasmussen. Dansk Cardiologisk Selskabs Årsmøde
Lecture+Poster: Cardiac fibrosis and function in primary carnitine deficiency evaluated by cardiac magnetic resonance. Kasper Kyhl, Jan Rasmussen. Forskningsdagen, Landssygehuset, Tórshavn
Lecture in the local PCD organization: CTD patienter undersøgt med hjerte MR. Kasper Kyhl, Tórshavn

Storage and access rights til collected data:
Belongs to the involved parties in the projects. All data is stored according to the national laws on data protection.

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