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Subclinical effects of long-chain fatty acid β-oxidation deficiency on the adult heart: A case-control magnetic resonance study.
Journal of Inherited Metabolic Disease ( IF 4.2 ) Pub Date : 2020-05-28 , DOI: 10.1002/jimd.12266
Suzan J G Knottnerus 1, 2 , Jeannette C Bleeker 1, 2 , Sacha Ferdinandusse 2 , Riekelt H Houtkooper 2 , Mirjam Langeveld 3 , Aart J Nederveen 4 , Gustav J Strijkers 5 , Gepke Visser 1, 2 , Ronald J A Wanders 2 , Frits A Wijburg 6 , S Matthijs Boekholdt 7 , Adrianus J Bakermans 4
Affiliation  

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 (1H‐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 T1 and T2 mapping, and localized 1H‐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 T1 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.

中文翻译:

长链脂肪酸β-氧化缺乏对成人心脏的亚临床影响:病例对照磁共振研究。

心肌病可能是长链脂肪酸 β-氧化障碍 (LCFAOD) 患者的严重并发症,尤其是在代谢紊乱期间。尚不清楚成年患者是否存在潜在的心脏异常。为了研究 LCFAOD 中的心脏受累,我们使用质子磁共振成像 (MRI) 和光谱学 ( 1 H-MRS) 来量化 14 名成年患者(其中两名患有长链 3-羟酰基-CoA 脱氢酶缺乏症 (LCHADD);4 名肉碱棕榈酰转移酶 II 缺乏症 (CPT2D);8 名极长链酰基辅酶 A 脱氢酶缺乏症 (VLCADD))和 14 名性别、年龄和 BMI 匹配的对照受试者。检查包括电影 MRI、MR 标记、天然心肌 T1和 T 2映射,并在 3 特斯拉定位1 H-MRS。患者的左心室 (LV) 心肌质量 ( P = .011) 和 LV 心肌质量体积比 ( P = .008) 较高,而射血分数 (EF) 正常 ( P = .397)。患者的 LV 扭转较高 ( P = .026),而周向缩短与对照组相似 ( P = .875)。左室肥厚伴有高心肌 T 1两名患者的值(表明弥漫性纤维化),另外一名患者的 EF 值较低。患者和对照组的心肌脂质含量相似。我们使用最先进的 MR 方法确定了 LCFAOD 患者和匹配的对照受试者心脏之间的亚临床形态学和功能差异。我们的研究结果表明 LCFAOD 中存在慢性心脏病表型和肥厚的 LV 重塑,这可能由轻度但慢性的能量缺乏引发,而不是由积累的脂质代谢物的脂毒性作用引发。
更新日期:2020-05-28
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