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

<p>Dataset from the article&nbsp;Al&igrave; M, Monti CB, Melazzini L, Cardani R, Fossati B, Cavalli M, Chow K, Secchi F, Meola G, Sardanelli F. Rare Disease: Cardiac Risk Assessment With MRI in Patients With Myotonic Dystrophy Type 1. Front Neurol. 2020 Mar 19;11:192. doi: 10.3389/fneur.2020.00192. PMID: 32265828; PMCID: PMC7098463.</p> <p>Abstract</p> <p><strong>Introduction:</strong>&nbsp;To evaluate myocardial strain and extracellular volume in myotonic dystrophy type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology.&nbsp;<strong>Materials and methods:</strong>&nbsp;We retrospectively analyzed 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&nbsp;<em>t</em>-test was used to compare the extracellular volume obtained in DM1 patients with that in healthy subject. Spearman&#39;s &rho; was used for studying the associations among imaging parameters.&nbsp;<strong>Results:</strong>&nbsp;Global cardiac strain (median -19.1%; IQR -20.5%, -16.5%) in DM1 patients was lower (<em>p</em>&nbsp;= 0.011) than that in controls (median-21.7%; IQR-22.7%,-21.3%). Global extracellular volume in DM1 patients (median 32.3%; IQR 29.3%,36.8%) was significantly (<em>p</em>&nbsp;= 0.008) higher than that reported in literature in healthy subjects (median 25.6%; IQR 19.9%,31.9%). Global cardiac strain showed a strong, positive correlation with septal strain (&rho; = 0.767,&nbsp;<em>p</em>&nbsp;= 0.016) and with both global (&rho; = 0.733&nbsp;<em>p</em>&nbsp;= 0.025) and septal extracellular volume (&rho; = 0.767,&nbsp;<em>p</em>&nbsp;= 0.016).&nbsp;<strong>Discussion:</strong>&nbsp;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.</p>