Comprehensive Cardiac Magnetic Resonance for Assessment of Cardiac Involvement in Myotonic Muscular Dystrophy Type 1 and 2 Without Known Cardiovascular Disease

Luetkens, Julian A.; Landenberg, C. von; Isaak, Alexander; Faron, Anton; Kuetting, Daniel; Gliem, Carla; Dabir, Darius; Kornblum, Cornelia; Thomas, Daniel

doi:10.1161/circimaging.119.009100

Cited by 14 publications

(23 citation statements)

References 5 publications

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“…Our preliminary results suggest that in DM1 patients without apparent cardiac disease, the increase in ECV and decrease in CS may be taken into consideration as a trigger for follow-up and implementation of preventive measures. Our results are also consistent with those reported by Luetkens et al (33) and Chmielewski et al (34) who investigated the role of CMR in DM1. The first found lower myocardial strain and higher ECV in 13 DM1 patients compared to controls.…”

Section: Discussionsupporting

confidence: 94%

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

et al. 2020

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Introduction: To evaluate myocardial strain and extracellular volume in myotonic dystrophy type 1 (DM1) patients as potential imaging biomarkers of subclinical cardiac pathology. Materials and methods: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 t-test was used to compare the extracellular volume 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 (median −19.1%; IQR −20.5%, −16.5%) in DM1 patients was lower (p = 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 (p = 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 (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.

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Section: Discussionsupporting

confidence: 94%

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

et al. 2020

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“…According to previous cardiac studies, increased T2 relaxation times are mainly driven due to myocardial edema or inflammation [27]. Therefore, increased T2 relaxation times in abdominal mapping probably reflect the coexistence of inflammatory or edematous changes in regions of fibrosis [28,29], which does not correlate well with measures of portal hypertension.…”

Section: Discussionmentioning

confidence: 95%

“…T1 and T2 maps were acquired in a single transverse section at the level of the bifurcation of portal vein and, therefore, may have missed other significant changes, which probably occurred in other planes. Furthermore, our T1 measurements were not corrected for hepatic steatosis or hepatic/splenic iron overload, which might impair the correct assessment of T1 values [29,30]. Another limitation of our study was that the reading of all cases was performed only by one experienced radiologist.…”

Section: Discussionmentioning

confidence: 99%

Magnetic resonance parametric mapping of the spleen for non-invasive assessment of portal hypertension

et al. 2020

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Objectives In patients with advanced liver disease, portal hypertension is an important risk factor, leading to complications such as esophageal variceal bleeding, ascites, and hepatic encephalopathy. This study aimed to determine the diagnostic value of T1 and T2 mapping and extracellular volume fraction (ECV) for the non-invasive assessment of portal hypertension. Methods In this prospective study, 50 participants (33 patients with indication for trans-jugular intrahepatic portosystemic shunt (TIPS) and 17 healthy volunteers) underwent MRI. The derivation and validation cohorts included 40 and 10 participants, respectively. T1 and T2 relaxation times and ECV of the liver and the spleen were assessed using quantitative mapping techniques. Direct hepatic venous pressure gradient (HVPG) and portal pressure measurements were performed during TIPS procedure. ROC analysis was performed to compare diagnostic performance. Results Splenic ECV correlated with portal pressure (r = 0.72; p < 0.001) and direct HVPG (r = 0.50; p = 0.003). No significant correlations were found between native splenic T1 and T2 relaxation times with portal pressure measurements (p > 0.05, respectively). In the derivation cohort, splenic ECV revealed a perfect diagnostic performance with an AUC of 1.000 for the identification of clinically significant portal hypertension (direct HVPG ≥ 10 mmHg) and outperformed other parameters: hepatic T2 (AUC, 0.731), splenic T2 (AUC, 0.736), and splenic native T1 (AUC, 0.806) (p < 0.05, respectively). The diagnostic performance of mapping parameters was comparable in the validation cohort. Conclusion Splenic ECV was associated with portal pressure measurements in patients with advanced liver disease. Future studies should explore the diagnostic value of parametric mapping accross a broader range of pressure values. Key Points • Non-invasive assessment and monitoring of portal hypertension is an area of unmet interest. • Splenic extracellular volume fraction is strongly associated with portal pressure in patients with end-stage liver disease. • Quantitative splenic and hepatic MRI-derived parameters have a potential to become a new non-invasive diagnostic parameter to assess and monitor portal pressure.

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“…A recent research including DM1 patients highlights the high burden of subclinical cardiac involvement in asymptomatic patients without restor Holter ECG abnormalities. DM patients had significantly lower LVEF and strain values compared to controls, and LGE could be depicted in 29% of them [66]. The prognostic utility of these findings needs to be evaluated in future, follow-up studies.…”

Section: Dmpk Genementioning

confidence: 97%

“…As in DM1, a great number of patients can have cardiac abnormalities by CMR without ECG alterations [66]. Furthermore, specific CMR techniques can also detect fat infiltration beyond presence of fibrosis, which is an additional marker of cardiac disease [26].…”

Section: Znf9 Genementioning

confidence: 99%

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies

Lamacie

Warman‐Chardon

Crean

et al. 2019

JND

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Muscular dystrophies (MD) represent a heterogeneous group of rare genetic diseases that often lead to significant weakness due to progressive muscle degeneration. In many forms of MD, cardiac manifestations including heart failure, atrial and ventricular arrhythmias and conduction abnormalities can occur and may be a predominant feature of the disease. Cardiac magnetic resonance (CMR) can assess cardiac anatomy, global and regional ventricular function, volumes and mass as well as presence of myocardial inflammation, infiltration or fibrosis. The role for cardiac MRI has been well-established in a wide range of muscular dystrophies related cardiomyopathies. CMR is a more sensitive technique than echocardiography for early diagnosis of cardiac involvement. It has also great potential to improve the prediction of long-term outcome, particularly the development of heart failure and arrhythmic events; however it still has to be validated by longitudinal studies including large populations. This review will outline the utility of CMR in patients with muscular dystrophies for assessment of myocardial involvement, risk stratification, and in guiding therapeutic management.

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Comprehensive Cardiac Magnetic Resonance for Assessment of Cardiac Involvement in Myotonic Muscular Dystrophy Type 1 and 2 Without Known Cardiovascular Disease

Cited by 14 publications

References 5 publications

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

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

Magnetic resonance parametric mapping of the spleen for non-invasive assessment of portal hypertension

The Added Value of Cardiac Magnetic Resonance in Muscular Dystrophies

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