AUTHOR=Alì Marco , Monti Caterina Beatrice , Melazzini Luca , Cardani Rosanna , Fossati Barbara , Cavalli Michele , Chow Kelvin , Secchi Francesco , Meola Giovanni , Sardanelli Francesco 

TITLE=Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1

JOURNAL=Frontiers in Neurology

VOLUME=Volume 11 - 2020

YEAR=2020

URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2020.00192

DOI=10.3389/fneur.2020.00192

ISSN=1664-2295

ABSTRACT=Introduction: To evaluate myocardial strain and extracellular volume in myotonic dystrophy type I (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology. 

Materials and methods: We retrospectively analysed 9 DM1 patients without apparent cardiac disease who had undergone cardiac magnetic resonance at our center. Patients were age- and sex-matched with healthy controls. The Mann-Whitney U test was used to compare cardiac strain between the two groups. The t-test was used to compare the ECV obtained in DM1 patients with that in healthy subject. Spearman’s ρ was used for studying the associations among imaging parameters.

Results: Global cardiac strain (-19.1%;-20.5%,-16.5%) in DM1 patients was lower (p=0.011) than that in controls (-21.7%;-22.7%,-21.3%). Global extracellular volume in DM1 patients (32.3%;29.3%,36.8%) was also significantly (p=0.008) lower than that reported in literature in healthy subjects (25.6%;19.9%,31.9%). Global cardiac strain showed a strong, positive correlation with septal strain (ρ=0.767, p=0.016) and with both global (ρ=0.733 p=0.025) and septal extracellular volume (ρ=0.767, p=0.016).

Discussion: The increase in cardiac extracellular volume and decrease in strain are signs of early cardiac pathology in DM1. Physicians dealing with DM1 may take into consideration cardiac magnetic resonance as a screening tool to identify early cardiac involvement in this condition.