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Myocardial Fibrosis and Left Ventricular Dysfunction in Duchenne Muscular Dystrophy Carriers Using Cardiac Magnetic Resonance Imaging

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Abstract

The goal of our study was to characterize the degree of myocardial fibrosis and left ventricular dysfunction in our cohort of Duchenne muscular dystrophy (DMD) carriers using cardiac magnetic resonance imaging (CMR). Seventy percent of males with DMD have mothers who are carriers of the Xp21 mutation. Carrier phenotypic characteristics range from asymptomatic to left ventricular (LV) dysfunction and cardiomyopathy. The true prevalence of cardiac involvement in DMD carriers is unknown. We performed a retrospective observational study. All female DMD carriers who underwent clinical CMR studies at Cincinnati Children’s Hospital Medical Center from December 6, 2006, to August 28, 2013, were evaluated. Patients underwent standard CMR assessment with LV function assessment and late gadolinium enhancement (LGE). In addition, offline feature tracking strain analysis was performed on the basal, mid, and apical short axis. Twenty-two patients were studied, of which 20 underwent adequate testing for myocardial LGE. Four of 22 patients (18 %) were found to have LV dysfunction (ejection fraction <55 %). Seven of 20 DMD carriers (35 %) were found to have LGE. The patients with evidence of LGE had an overall trend to lower absolute deformation parameters; however, this did not meet statistical significance when correcting for multiple comparisons. Our study demonstrates a high rate of LGE as well as LV dysfunction in DMD carriers. Cardiovascular and musculoskeletal symptoms were not statistically different between those with and without cardiac involvement. This study demonstrates the importance of surveillance CMR evaluation of DMD carriers.

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Abbreviations

AAP:

American Academy of Pediatrics

ACE:

Angiotensin-converting enzyme

CMR:

Cardiac magnetic resonance

DMD:

Duchenne muscular dystrophy

EF:

Ejection fraction

FT:

Feature tracking

Gd-DTPA:

Gadolinium diethylene triamine penta-acetic acid

LGE:

Late gadolinium enhancement

LV:

Left ventricle

SSFP:

Steady-state free precession

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Acknowledgments

The authors declare that they have no competing interests.

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    Authors and Affiliations

    1. Arkansas Children’s Hospital, University of Arkansas for Medical Sciences, 1 Children’s Way, Little Rock, AR, USA

      Sean M. Lang

    2. The Heart Institute, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH, USA

      Svetlana Shugh, Joshua J. Sticka, John L. Jefferies & Michael D. Taylor

    3. The Ohio Heart and Vascular Center at The Christ Hospital, 2123 Auburn Ave, Suite 138, Cincinnati, OH, USA

      Wojciech Mazur

    4. Department of Radiology, Cincinnati Children’s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH, USA

      Mantosh S. Rattan

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    1. Sean M. Lang
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    2. Svetlana Shugh
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    Correspondence to Sean M. Lang.

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    S.M. Lang and S. Shugh contributed equally to this manuscript.

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    Lang, S.M., Shugh, S., Mazur, W. et al. Myocardial Fibrosis and Left Ventricular Dysfunction in Duchenne Muscular Dystrophy Carriers Using Cardiac Magnetic Resonance Imaging. Pediatr Cardiol 36, 1495–1501 (2015). https://doi.org/10.1007/s00246-015-1192-7

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    • DOI: https://doi.org/10.1007/s00246-015-1192-7

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