Related Experiment Video
Updated: Jun 13, 2025
Noninvasive Assessment of Cardiac Abnormalities in Experimental Autoimmune Myocarditis by Magnetic Resonance Microscopy Imaging in the Mouse
Published on: June 20, 2014
Imaging features of desmoplakin arrhythmogenic cardiomyopathy: A comparative cardiovascular magnetic resonance study
Mikael Laredo1, Etienne Charpentier2, Shannon Soulez3
1Sorbonne Université, CNRS, INSERM, Laboratoire d'Imagerie Biomédicale, LIB, Paris, France; Sorbonne Université, Département de Cardiologie, AP-HP, Hôpital Universitaire Pitié-Salpêtrière, Paris, France; Institute of Cardiometabolism and Nutrition (IHU ICAN), Paris, France.
Insights
Desmoplakin (DSP) mutations in arrhythmogenic cardiomyopathy (ACM) show distinct cardiovascular magnetic resonance (CMR) imaging features. These include specific patterns of left ventricular (LV) late gadolinium enhancement (LGE) and LV to RV volume ratios, aiding diagnosis.
Area of Science:
- Cardiology
- Genetics
- Medical Imaging
Background:
- Arrhythmogenic cardiomyopathy (ACM) linked to Desmoplakin (DSP) mutations presents with severe outcomes and frequent left ventricular (LV) involvement.
- Specific cardiovascular magnetic resonance (CMR) imaging characteristics of DSP-ACM are not well-defined.
- This study compares CMR findings in DSP-ACM to arrhythmogenic cardiomyopathy with LV involvement (LV+ right-dominant-ACM).
Purpose of the Study:
- To comprehensively describe CMR findings in patients with DSP-ACM.
- To compare these findings with those in LV+ right-dominant-ACM patients.
- To identify imaging features that can help differentiate DSP-ACM.
Main Methods:
- Cardiovascular magnetic resonance (CMR) imaging was performed on 70 arrhythmogenic cardiomyopathy (ACM) patients (37 DSP-ACM, 33 LV+ right-dominant-ACM).
- Biventricular metrics, segmental wall motion abnormalities (WMA), and LV late gadolinium enhancement (LGE) were assessed.
- LGE was evaluated qualitatively and quantitatively using semi-automated segmentation.
Main Results:
- DSP-ACM patients had lower LVEF (46% vs 56%) and higher RVEF (45% vs 40%) compared to LV+ right-dominant-ACM.
- The LV to RV end-systolic volume ratio was significantly higher in DSP-ACM (0.96 vs 0.59) and differentiated the groups effectively (AUC 0.86).
- DSP-ACM showed more LV WMA, greater LGE amount (14% vs 2%), and specific patterns like transmural or ring-like LGE, particularly in lateral/inferior walls.
Conclusions:
- A LV to RV end-systolic volume ratio > 0.8, global LGE > 5%, and transmural/ring-like LGE patterns are highly suggestive of DSP-ACM.
- These CMR findings warrant careful diagnostic evaluation due to the severe prognosis of DSP-ACM.
- Specific imaging biomarkers can aid in the diagnosis and management of DSP-ACM.
Background:
Arrhythmogenic cardiomyopathy (ACM) related to Desmoplakin (DSP) mutations is a distinct condition associated with particularly severe outcomes, more frequent left ventricular (LV) involvement, including fibrosis, dysfunction, and inflammatory episodes. Whether DSP-ACM is associated with specific imaging features remains elusive. This study aims to provide a comprehensive description of cardiovascular magnetic resonance (CMR) findings in patients with DSP-ACM and to compare them to RV-dominant ACM with LV involvement (LV+ right-dominant-ACM).
Methods:
Patients with DSP-ACM matched with patients with ACM related to a non-DSP desmosomal mutation and ≥1 feature of LV involvement underwent CMR in two institutions. Biventricular metrics and segmental wall motion abnormalities (WMA) were assessed. LV late gadolinium enhancement (LGE) was assessed both qualitatively and quantitatively after semi-automated segmentation.
Results:
Overall, 70 ACM patients were analyzed; 37 with DSP-ACM and 33 in the LV+ right-dominant-ACM group. LVEF was significantly lower in the DSP-ACM group (46 ± 12%) than in the LV+ right-dominant-ACM group (56 ± 10%, P = 0.001). Conversely, RVEF was significantly higher in the DSP-ACM group (45 ± 11% vs. 40 ± 12%, P = 0.04) and both RV end-diastolic (100 ± 24 vs 130 ± 44 mL/m², P = 0.002) and end-systolic (56 ± 21 vs 81 ± 45 mL/m², P = 0.007) indexed volumes were significantly smaller in DSP-ACM as compared to the LV+ right-dominant-ACM group. The LV to RV end-systolic volume ratio (0.96 [interquartile range (IQR)0.70-1.27] vs. 0.59 [IQR 0.48-0.69]) was significantly higher in the DSP-ACM group (P < 0.0001), and had a good performance in differentiating both groups (area under the ROC curve 0.86, optimal threshold 0.8). Patients in the DSP-ACM group had significantly more LV and less RV WMA than those in the LV+ right-dominant-ACM group. The amount of LGE was significantly higher in the DSP group (14% ± 16 vs. 2%±3, P < 0.0001) and present in the majority of LV segments, particularly in the lateral and inferior walls, as compared to LV+ right-dominant-ACM patients. Transmural LGE and the presence of a ring-like pattern corresponding to circumferential subepicardial LGE involving ≥3 contiguous LV basal segments were highly specific of DSP-ACM.
Conclusion:
The presence of LV to RV end-systolic volume ratio>0.8, global LGE>5%, transmural and/or a ring-like LGE pattern are highly suggestive of DSP-ACM and should prompt careful diagnostic assessment considering the severe associated outcome.
