Non-invasive evaluation of the relationship between electrical and structural cardiac abnormalities in patients with myotonic dystrophy type 1.

Background: Cardiac involvement in myotonic dystrophy type 1 (MD1) includes conduction disease, arrhythmias, and left-ventricular (LV) systolic dysfunction leading to an increased sudden cardiac death risk. An understanding of the interplay between electrical and structural myocardial changes could improve the prediction of adverse cardiac events. We aimed to explore the relationship between signs of cardiomyopathy by conventional and advanced cardiovascular magnetic resonance (CMR), and electrical abnormalities in MD1.

Methods: Fifty-seven MD1 patients (43 ± 13 years, 46% male) and 15 matched controls (41 ± 7 years, 53% male) underwent CMR including cine-imaging with feature-tracking strain analysis, late gadolinium enhancement (LGE), and native/post-contrast T1-mapping with extracellular volume calculation. Standard 12-lead and long-term ECG monitoring were performed as screening for rhythm and/or conduction abnormalities.

Results: Abnormal ECGs were recorded in 40% of MD1; a pathologic CMR was found in 44%: 21% had an impaired LV-EF and 32% showed non-ischemic LGE. When looking at MD1 patients with available long-term ECG monitoring (n = 39), those with atrial fibrillation (Afib)/flutter(Afl) episodes had lower LV-EF (52 ± 7 vs. 60 ± 5%, p = 0.002), lower global longitudinal strain (- 17 ± 3 vs. - 20 ± 3%, p = 0.034), a trend to lower left atrial emptying fraction (LA-EF) (44 ± 14 vs. 55 ± 8%, p = 0.08), and higher prevalence of LGE (88% vs. 23%, p = 0.001) with an intramural (75% vs. 23%, p = 0.01) and septal (63% vs. 13%, p = 0.009) pattern. In a model including LV-EF (OR 0.8, 95% CI 0.7-1.0, p = NS) and LGE presence (OR 14.8, 95% CI 1.4-159.0, p = 0.026), only LGE was independently associated with the occurrence of Afib/Afl episodes.

Conclusion: Myocardial abnormalities depicted by non-ischemic LGE-CMR were the only independent predictor for the occurrence of Afib/Afl on ECG monitoring, previously shown to predict adverse cardiac events in MD1.