Amino Acid and Phospholipid Metabolism as an Indicator of Inflammation and Subtle Cardiomyopathy in Patients with Marfan Syndrome
Lisa Bartenbach,
Thomas Karall,
Jakob Koch,
Markus Andreas Keller,
Herbert Oberacher,
Sabine Scholl-Bürgi,
Daniela Karall,
Gregor Oemer,
Daniela Baumgartner,
Katharina Meinel,
Safwat Aly,
Irena Odri-Komazec,
Ralf Geiger,
Miriam Michel
Affiliations
Lisa Bartenbach
Department of Child and Adolescent Health, Division of Pediatrics III—Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria
Thomas Karall
Department of Child and Adolescent Health, Division of Pediatrics III—Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria
Jakob Koch
Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria
Markus Andreas Keller
Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria
Herbert Oberacher
Institute of Legal Medicine and Core Facility Metabolomics, Medical University of Innsbruck, 6020 Innsbruck, Austria
Sabine Scholl-Bürgi
Department of Child and Adolescent Health, Division of Pediatrics I—Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria
Daniela Karall
Department of Child and Adolescent Health, Division of Pediatrics I—Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria
Gregor Oemer
Institute of Human Genetics, Medical University of Innsbruck, 6020 Innsbruck, Austria
Daniela Baumgartner
Department of Pediatrics, Clinical Division for Pediatric Cardiology, Medical University of Graz, 8010 Graz, Austria
Katharina Meinel
Department of Pediatrics, Clinical Division for Pediatric Cardiology, Medical University of Graz, 8010 Graz, Austria
Safwat Aly
The Hospital for Sick Children, Labatt Family Heart Centre, Division for Pediatric Cardiology, Toronto, ON M5G 1X8, Canada
Irena Odri-Komazec
Department of Child and Adolescent Health, Division of Pediatrics III—Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria
Ralf Geiger
Department of Child and Adolescent Health, Division of Pediatrics III—Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria
Miriam Michel
Department of Child and Adolescent Health, Division of Pediatrics III—Cardiology, Pulmonology, Allergology and Cystic Fibrosis, Medical University of Innsbruck, 6020 Innsbruck, Austria
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.
