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Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study
Cardiomyopathy can be a severe complication in patients with long‐chain fatty acid β‐oxidation disorders (LCFAOD), particularly during episodes of metabolic derangement. It is unknown whether latent cardiac abnormalities exist in adult patients. To investigate cardiac involvement in LCFAOD, we used...
Autores principales: | , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539973/ https://www.ncbi.nlm.nih.gov/pubmed/32463482 http://dx.doi.org/10.1002/jimd.12266 |
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author | Knottnerus, Suzan J. G. Bleeker, Jeannette C. Ferdinandusse, Sacha Houtkooper, Riekelt H. Langeveld, Mirjam Nederveen, Aart J. Strijkers, Gustav J. Visser, Gepke Wanders, Ronald J. A. Wijburg, Frits A. Boekholdt, S. Matthijs Bakermans, Adrianus J. |
author_facet | Knottnerus, Suzan J. G. Bleeker, Jeannette C. Ferdinandusse, Sacha Houtkooper, Riekelt H. Langeveld, Mirjam Nederveen, Aart J. Strijkers, Gustav J. Visser, Gepke Wanders, Ronald J. A. Wijburg, Frits A. Boekholdt, S. Matthijs Bakermans, Adrianus J. |
author_sort | Knottnerus, Suzan J. G. |
collection | PubMed |
description | Cardiomyopathy can be a severe complication in patients with long‐chain fatty acid β‐oxidation disorders (LCFAOD), particularly during episodes of metabolic derangement. It is unknown whether latent cardiac abnormalities exist in adult patients. To investigate cardiac involvement in LCFAOD, we used proton magnetic resonance imaging (MRI) and spectroscopy ((1)H‐MRS) to quantify heart function, myocardial tissue characteristics, and myocardial lipid content in 14 adult patients (two with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD); four with carnitine palmitoyltransferase II deficiency (CPT2D); and eight with very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)) and 14 gender‐, age‐, and BMI‐matched control subjects. Examinations included cine MRI, MR tagging, native myocardial T(1) and T(2) mapping, and localized (1)H‐MRS at 3 Tesla. Left ventricular (LV) myocardial mass (P = .011) and the LV myocardial mass‐to‐volume ratio (P = .008) were higher in patients, while ejection fraction (EF) was normal (P = .397). LV torsion was higher in patients (P = .026), whereas circumferential shortening was similar compared with controls (P = .875). LV hypertrophy was accompanied by high myocardial T(1) values (indicative of diffuse fibrosis) in two patients, and additionally a low EF in one case. Myocardial lipid content was similar in patients and controls. We identified subclinical morphological and functional differences between the hearts of LCFAOD patients and matched control subjects using state‐of‐the‐art MR methods. Our results suggest a chronic cardiac disease phenotype and hypertrophic LV remodeling of the heart in LCFAOD, potentially triggered by a mild, but chronic, energy deficiency, rather than by lipotoxic effects of accumulating lipid metabolites. |
format | Online Article Text |
id | pubmed-7539973 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | John Wiley & Sons, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-75399732020-10-09 Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study Knottnerus, Suzan J. G. Bleeker, Jeannette C. Ferdinandusse, Sacha Houtkooper, Riekelt H. Langeveld, Mirjam Nederveen, Aart J. Strijkers, Gustav J. Visser, Gepke Wanders, Ronald J. A. Wijburg, Frits A. Boekholdt, S. Matthijs Bakermans, Adrianus J. J Inherit Metab Dis Original Articles Cardiomyopathy can be a severe complication in patients with long‐chain fatty acid β‐oxidation disorders (LCFAOD), particularly during episodes of metabolic derangement. It is unknown whether latent cardiac abnormalities exist in adult patients. To investigate cardiac involvement in LCFAOD, we used proton magnetic resonance imaging (MRI) and spectroscopy ((1)H‐MRS) to quantify heart function, myocardial tissue characteristics, and myocardial lipid content in 14 adult patients (two with long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD); four with carnitine palmitoyltransferase II deficiency (CPT2D); and eight with very long‐chain acyl‐CoA dehydrogenase deficiency (VLCADD)) and 14 gender‐, age‐, and BMI‐matched control subjects. Examinations included cine MRI, MR tagging, native myocardial T(1) and T(2) mapping, and localized (1)H‐MRS at 3 Tesla. Left ventricular (LV) myocardial mass (P = .011) and the LV myocardial mass‐to‐volume ratio (P = .008) were higher in patients, while ejection fraction (EF) was normal (P = .397). LV torsion was higher in patients (P = .026), whereas circumferential shortening was similar compared with controls (P = .875). LV hypertrophy was accompanied by high myocardial T(1) values (indicative of diffuse fibrosis) in two patients, and additionally a low EF in one case. Myocardial lipid content was similar in patients and controls. We identified subclinical morphological and functional differences between the hearts of LCFAOD patients and matched control subjects using state‐of‐the‐art MR methods. Our results suggest a chronic cardiac disease phenotype and hypertrophic LV remodeling of the heart in LCFAOD, potentially triggered by a mild, but chronic, energy deficiency, rather than by lipotoxic effects of accumulating lipid metabolites. John Wiley & Sons, Inc. 2020-06-05 2020-09 /pmc/articles/PMC7539973/ /pubmed/32463482 http://dx.doi.org/10.1002/jimd.12266 Text en © 2020 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Original Articles Knottnerus, Suzan J. G. Bleeker, Jeannette C. Ferdinandusse, Sacha Houtkooper, Riekelt H. Langeveld, Mirjam Nederveen, Aart J. Strijkers, Gustav J. Visser, Gepke Wanders, Ronald J. A. Wijburg, Frits A. Boekholdt, S. Matthijs Bakermans, Adrianus J. Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title | Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title_full | Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title_fullStr | Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title_full_unstemmed | Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title_short | Subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: A case‐control magnetic resonance study |
title_sort | subclinical effects of long‐chain fatty acid β‐oxidation deficiency on the adult heart: a case‐control magnetic resonance study |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7539973/ https://www.ncbi.nlm.nih.gov/pubmed/32463482 http://dx.doi.org/10.1002/jimd.12266 |
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