Increased risk of sudden death in untreated primary carnitine deficiency
Abstract Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD, 1:300. This study systematically investigated a possible association...
Published in: | Journal of Inherited Metabolic Disease |
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Online Access: | http://dx.doi.org/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12158 |
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crwiley:10.1002/jimd.12158 2024-10-13T14:07:05+00:00 Increased risk of sudden death in untreated primary carnitine deficiency Rasmussen, Jan Dunø, Morten Lund, Allan M. Steuerwald, Ulrike Hansen, Steen‐Holger Joensen, Høgni D. Køber, Lars Nielsen, Olav W. 2019 http://dx.doi.org/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12158 en eng Wiley http://onlinelibrary.wiley.com/termsAndConditions#vor Journal of Inherited Metabolic Disease volume 43, issue 2, page 290-296 ISSN 0141-8955 1573-2665 journal-article 2019 crwiley https://doi.org/10.1002/jimd.12158 2024-09-17T04:50:38Z Abstract Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD, 1:300. This study systematically investigated a possible association between untreated PCD and sudden death in young Faroese subjects. We investigated all medico‐legal cases of sudden death between 1979 and 2012 among subjects below the age of 45. Stored biomaterial was examined with molecular genetic analysis to reveal PCD. We compared the prevalence of PCD among sudden death cases with that of the background population (0.23%) to calculate the odds ratio (OR) for sudden death with PCD. Biomaterial was available and genetically analyzed from 53 of 65 sudden death cases (82%) in the Faroe Islands. Six (one male and five females) of the 53 cases were homozygous for the PCD related c.95A>G mutation—a prevalence of 11.3% (95% CI 5%‐23%) and an OR of 54.3 (95% CI 21‐138, P < .0001) for the association between sudden death and untreated PCD. Only 11 of the 53 sudden death cases were women—of whom five were homozygous for the c.95A>G mutation (45.5%) yielding an OR of 348.8 (95% CI 94‐1287, P < .0001) for the association between sudden death and untreated PCD in females. This study showed a strong association between sudden death and untreated PCD, especially in females. Article in Journal/Newspaper Faroe Islands Wiley Online Library Faroe Islands Journal of Inherited Metabolic Disease 43 2 290 296 |
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English |
description |
Abstract Primary carnitine deficiency (PCD) affects fatty acid oxidation and is associated with cardiomyopathy and cardiac arrhythmia, but the risk of sudden death in PCD is unknown. The Faroe Islands have a high prevalence of PCD, 1:300. This study systematically investigated a possible association between untreated PCD and sudden death in young Faroese subjects. We investigated all medico‐legal cases of sudden death between 1979 and 2012 among subjects below the age of 45. Stored biomaterial was examined with molecular genetic analysis to reveal PCD. We compared the prevalence of PCD among sudden death cases with that of the background population (0.23%) to calculate the odds ratio (OR) for sudden death with PCD. Biomaterial was available and genetically analyzed from 53 of 65 sudden death cases (82%) in the Faroe Islands. Six (one male and five females) of the 53 cases were homozygous for the PCD related c.95A>G mutation—a prevalence of 11.3% (95% CI 5%‐23%) and an OR of 54.3 (95% CI 21‐138, P < .0001) for the association between sudden death and untreated PCD. Only 11 of the 53 sudden death cases were women—of whom five were homozygous for the c.95A>G mutation (45.5%) yielding an OR of 348.8 (95% CI 94‐1287, P < .0001) for the association between sudden death and untreated PCD in females. This study showed a strong association between sudden death and untreated PCD, especially in females. |
format |
Article in Journal/Newspaper |
author |
Rasmussen, Jan Dunø, Morten Lund, Allan M. Steuerwald, Ulrike Hansen, Steen‐Holger Joensen, Høgni D. Køber, Lars Nielsen, Olav W. |
spellingShingle |
Rasmussen, Jan Dunø, Morten Lund, Allan M. Steuerwald, Ulrike Hansen, Steen‐Holger Joensen, Høgni D. Køber, Lars Nielsen, Olav W. Increased risk of sudden death in untreated primary carnitine deficiency |
author_facet |
Rasmussen, Jan Dunø, Morten Lund, Allan M. Steuerwald, Ulrike Hansen, Steen‐Holger Joensen, Høgni D. Køber, Lars Nielsen, Olav W. |
author_sort |
Rasmussen, Jan |
title |
Increased risk of sudden death in untreated primary carnitine deficiency |
title_short |
Increased risk of sudden death in untreated primary carnitine deficiency |
title_full |
Increased risk of sudden death in untreated primary carnitine deficiency |
title_fullStr |
Increased risk of sudden death in untreated primary carnitine deficiency |
title_full_unstemmed |
Increased risk of sudden death in untreated primary carnitine deficiency |
title_sort |
increased risk of sudden death in untreated primary carnitine deficiency |
publisher |
Wiley |
publishDate |
2019 |
url |
http://dx.doi.org/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12158 https://onlinelibrary.wiley.com/doi/full-xml/10.1002/jimd.12158 |
geographic |
Faroe Islands |
geographic_facet |
Faroe Islands |
genre |
Faroe Islands |
genre_facet |
Faroe Islands |
op_source |
Journal of Inherited Metabolic Disease volume 43, issue 2, page 290-296 ISSN 0141-8955 1573-2665 |
op_rights |
http://onlinelibrary.wiley.com/termsAndConditions#vor |
op_doi |
https://doi.org/10.1002/jimd.12158 |
container_title |
Journal of Inherited Metabolic Disease |
container_volume |
43 |
container_issue |
2 |
container_start_page |
290 |
op_container_end_page |
296 |
_version_ |
1812813356626608128 |