Diffuse Myocardial Fibrosis in Children and Adolescents With Marfan Syndrome and Loeys-Dietz Syndrome

• Published in: Journal of the American College of Cardiology Vol. 72; no. 18; pp. 2279 - 2281
• Main Authors: Karur, Gauri R., Pagano, Joseph J., Bradley, Timothy, Lam, Christopher Z., Seed, Mike, Yoo, Shi-Joon, Grosse-Wortmann, Lars
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 30-10-2018; Elsevier Limited
• Subjects: Adolescent; Adolescents; Cardiology; Cardiomyopathies - diagnostic imaging; Cardiomyopathies - epidemiology; Cardiomyopathies - physiopathology; Child; Children; Female; Fibrosis; Fibrosis - diagnostic imaging; Fibrosis - epidemiology; Fibrosis - physiopathology; Humans; Loeys-Dietz Syndrome - diagnostic imaging; Loeys-Dietz Syndrome - epidemiology; Loeys-Dietz Syndrome - physiopathology; Magnetic Resonance Imaging, Cine - methods; Male; Marfan syndrome; Marfan Syndrome - diagnostic imaging; Marfan Syndrome - ethnology; Marfan Syndrome - physiopathology; Myocardium - pathology; Teenagers; Transforming growth factor-b
• ISSN: 0735-1097; 1558-3597
• DOI: 10.1016/j.jacc.2018.07.095

Losartan, by interfering with transforming growth factor-β signaling pathways and causing extracellular signal-regulated kinase inhibition, has shown significant attenuation of fibrosis in mice (5). Despite our attempt to eliminate confounders for myocardial T1 and ECV elevation, including previous surgery, and analysis by a single observer, alternative explanations of our observation must be explored: LDS patients were smaller than MFS patients, and it is possible that higher T1 values are attributable to partial-volume effects between blood and myocardium, exaggerated on non–breath-held images. [...]imaging biomarkers of diffuse myocardial fibrosis are elevated, and systolic function is impaired in children and adolescents with MFS and LDS, irrespective of aortic dimensions and valvular disease.