Pediatric Cardiology

, Volume 38, Issue 7, pp 1485–1492 | Cite as

Elevated Myocardial Extracellular Volume Fraction in Duchenne Muscular Dystrophy

  • James J. Starc
  • Ryan A. Moore
  • Mantosh S. Rattan
  • Chet R. Villa
  • Zhiqian Gao
  • Wojciech Mazur
  • John L. Jefferies
  • Michael D. Taylor
Original Article

Abstract

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.

Keywords

Magnetic resonance imaging Duchenne muscular dystrophy cardiomyopathy Myocardial fibrosis Heart failure Late gadolinium enhancement 

Notes

Compliance with Ethical Standards

Conflict of interest

All authors declare that they have no conflict of interest.

Ethical Approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. For this type of study, formal consent is not required.

Research Involving Human and Animal Rights

This article does not contain any studies with animals performed by any of the authors.

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Copyright information

© Springer Science+Business Media, LLC 2017

Authors and Affiliations

  1. 1.Division of Pediatric CardiologyMount Sinai Medical CenterNew YorkUSA
  2. 2.The Heart Institute, Cincinnati Children’s Hospital Medical CenterCincinnatiUSA
  3. 3.Department of RadiologyCincinnati Children’s Hospital Medical CenterCincinnatiUSA
  4. 4.The Heart and Vascular Center at the Christ HospitalCincinnatiUSA

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