Elevated Myocardial Extracellular Volume Fraction in Duchenne Muscular Dystrophy. 2017

James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
Division of Pediatric Cardiology, Mount Sinai Medical Center, One Gustave L. Levy Place, Post Box 1201, New York, NY, 10029, USA. james.starc@mssm.edu.

Duchenne muscular dystrophy (DMD) is a genetic, X-linked recessive disease with an associated cardiomyopathy characterized by myocardial fibrosis leading to heart failure, arrhythmias, and death. Earlier detection and treatment of cardiac involvement in DMD hold potential to improve outcomes. Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) quantification using T1 mapping is a histologically validated, non-invasive marker of diffuse fibrosis. This study aims to determine the ECV in a pediatric DMD population, and correlate it with metrics of left ventricular function. A retrospective review of pediatric DMD subjects who underwent CMR at a single institution. A total of 47 DMD patients (mean age 14 ± 2 years) were included for analysis. Global myocardial ECV was significantly higher in the DMD group (29 ± 6%) compared with published normal values (24 ± 2%, p = 0.0001). Higher ECV values correlate with indices of left ventricular function, including decreased left ventricular ejection fraction (r = -0.46, p = 0.001) and indexed left ventricular end diastolic volume (r = 0.41, p = 0.004). ECV was not significantly higher in DMD patients with late gadolinium enhancement (LGE) (30 ± 7%) compared to DMD patients without LGE (27 ± 5%, p = 0.0717). CMR T1 mapping is a feasible method for quantification of ECV in patients with DMD. Global myocardial ECV is significantly higher in the DMD population compared to healthy controls and correlates with other metrics of myocardial function. Global myocardial ECV may serve as an important tool to determine cardiac involvement in DMD population and help guide medical management.

UI MeSH Term Description Entries
D008297 Male Males
D009202 Cardiomyopathies A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS). Myocardial Disease,Myocardial Diseases,Myocardial Diseases, Primary,Myocardial Diseases, Secondary,Myocardiopathies,Primary Myocardial Disease,Cardiomyopathies, Primary,Cardiomyopathies, Secondary,Primary Myocardial Diseases,Secondary Myocardial Diseases,Cardiomyopathy,Cardiomyopathy, Primary,Cardiomyopathy, Secondary,Disease, Myocardial,Disease, Primary Myocardial,Disease, Secondary Myocardial,Diseases, Myocardial,Diseases, Primary Myocardial,Diseases, Secondary Myocardial,Myocardial Disease, Primary,Myocardial Disease, Secondary,Myocardiopathy,Primary Cardiomyopathies,Primary Cardiomyopathy,Secondary Cardiomyopathies,Secondary Cardiomyopathy,Secondary Myocardial Disease
D009206 Myocardium The muscle tissue of the HEART. It is composed of striated, involuntary muscle cells (MYOCYTES, CARDIAC) connected to form the contractile pump to generate blood flow. Muscle, Cardiac,Muscle, Heart,Cardiac Muscle,Myocardia,Cardiac Muscles,Heart Muscle,Heart Muscles,Muscles, Cardiac,Muscles, Heart
D011856 Radiographic Image Enhancement Improvement in the quality of an x-ray image by use of an intensifying screen, tube, or filter and by optimum exposure techniques. Digital processing methods are often employed. Digital Radiography,Image Enhancement, Radiographic,Radiography, Digital,Enhancement, Radiographic Image,Enhancements, Radiographic Image,Image Enhancements, Radiographic,Radiographic Image Enhancements
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003287 Contrast Media Substances used to allow enhanced visualization of tissues. Radiopaque Media,Contrast Agent,Contrast Agents,Contrast Material,Contrast Materials,Radiocontrast Agent,Radiocontrast Agents,Radiocontrast Media,Agent, Contrast,Agent, Radiocontrast,Agents, Contrast,Agents, Radiocontrast,Material, Contrast,Materials, Contrast,Media, Contrast,Media, Radiocontrast,Media, Radiopaque
D005110 Extracellular Space Interstitial space between cells, occupied by INTERSTITIAL FLUID as well as amorphous and fibrous substances. For organisms with a CELL WALL, the extracellular space includes everything outside of the CELL MEMBRANE including the PERIPLASM and the cell wall. Intercellular Space,Extracellular Spaces,Intercellular Spaces,Space, Extracellular,Space, Intercellular,Spaces, Extracellular,Spaces, Intercellular
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000293 Adolescent A person 13 to 18 years of age. Adolescence,Youth,Adolescents,Adolescents, Female,Adolescents, Male,Teenagers,Teens,Adolescent, Female,Adolescent, Male,Female Adolescent,Female Adolescents,Male Adolescent,Male Adolescents,Teen,Teenager,Youths
D012189 Retrospective Studies Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons. Retrospective Study,Studies, Retrospective,Study, Retrospective

Related Publications

James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
January 2016, Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
January 1979, Transactions of the American Neurological Association,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
June 2010, Cell and tissue research,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
January 2022, Frontiers in cardiovascular medicine,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
January 2003, Pediatric cardiology,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
September 2023, Orphanet journal of rare diseases,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
October 2023, Orphanet journal of rare diseases,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
September 2017, JAMA cardiology,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
May 2023, Radiology,
James J Starc, and Ryan A Moore, and Mantosh S Rattan, and Chet R Villa, and Zhiqian Gao, and Wojciech Mazur, and John L Jefferies, and Michael D Taylor
November 2017, Trends in molecular medicine,
Copied contents to your clipboard!