Bartenbach Lisa, Karall Thomas, Koch Jakob, Keller Markus Andreas, Oberacher Herbert, Scholl-Bürgi Sabine, Karall Daniela, Oemer Gregor, Baumgartner Daniela, Meinel Katharina, Aly Safwat, Odri-Komazec Irena, Geiger Ralf, Michel Miriam
Department of Child and Adolescent Health, Division of Pediatrics III-Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria.
Metabolites. 2021 Nov 27;11(12):805. doi: 10.3390/metabo11120805.
Patients with Marfan syndrome (MFS) have an increased risk of aortic aneurysm formation, dissection and development of a subtle cardiomyopathy. We analyzed amino acid and lipid metabolic pathways in MFS patients, seeking biomarker patterns as potential monitoring tools of cardiovascular risk with deterioration of myocardial function. We assessed myocardial function in 24 adult MFS patients and compared traditional laboratory values and mass spectrometry-based amino acid, phospholipid and acylcarnitine metabolomes in patients with those in healthy controls. Analytes for which values differed between patients and controls were subjected to regression analysis. A high proportion of patients had signs of impaired diastolic function and elevated serum levels of NT-proBNP. Patients had lower serum levels of taurine, histidine and PCaeC42:3 than controls. The evidence of diastolic dysfunction, aortic root dimensions and history of aortic root surgery correlated with NT-proBNP and taurine levels. Alterations in serum levels of metabolism derived analytes link MFS pathophysiology with inflammation, oxidative stress and incipient cardiomyopathy.
患有马凡综合征（MFS）的患者发生主动脉瘤形成、夹层分离和轻微心肌病发展的风险增加。我们分析了MFS患者的氨基酸和脂质代谢途径，寻找生物标志物模式作为心肌功能恶化时心血管风险的潜在监测工具。我们评估了24名成年MFS患者的心肌功能，并将患者的传统实验室值以及基于质谱的氨基酸、磷脂和酰基肉碱代谢组与健康对照者进行了比较。对患者和对照者之间值存在差异的分析物进行回归分析。很大一部分患者有舒张功能受损的迹象以及血清NT-proBNP水平升高。患者的血清牛磺酸、组氨酸和PCaeC42:3水平低于对照者。舒张功能障碍、主动脉根部尺寸和主动脉根部手术史的证据与NT-proBNP和牛磺酸水平相关。血清代谢衍生分析物水平的改变将MFS病理生理学与炎症、氧化应激和早期心肌病联系起来。
