Comprehensive multi-modality imaging approach in arrhythmogenic cardiomyopathy-an expert consensus document of the European Association of Cardiovascular Imaging

Abstract

Arrhythmogenic cardiomyopathy (AC) is a progressive disease with high risk of life-threatening ventricular arrhythmias. A genetic mutation is found in up to 50-60% of probands, mostly affecting desmosomal genes. Diagnosis of AC is made by a combination of data from different modalities including imaging, electrocardiogram, Holter monitoring, family history, genetic testing, and tissue properties. Being a progressive cardiomyopathy, repeated cardiac imaging is needed in AC patients. Repeated imaging is important also for risk assessment of ventricular arrhythmias. This expert consensus document gives clinical recommendations for how to use multi-modality imaging in the different aspects of AC disease, including diagnosis, family screening, follow-up, risk assessment, and differential diagnosis.

Keywords: arrhythmogenic cardiomyopathy; cardiac magnetic resonance; echocardiography; late gadolinium enhancement; multi-modality imaging; multidetector computed tomography; speckle tracking echocardiography.

Figure 1

Precordial ECG leads from an AC patient at rest with typical T-wave inversions in V1–V4 (red arrows).

Figure 2

Proximal RV outflow diameters (RVOT PLAX and PSAX) and RV basal diameter (RVD) (diastole). Courtesy: Dr J. Saberniak.

Figure 3

RV fractional area change (RV-FAC) calculated from (A) RV end-diastolic area and (B) EV end-systolic area as (RVEDA − RVESA)/RVEDA × 100. (C) Left dominant type of AC with reduced LV function, LV dilatation, CMR showed epicardial fibrosis, ECG showed T-inversion V1–V6 and in inferior leads. The patient suffered from ventricular arrhythmia and was implanted with an ICD. Courtesy: Dr J. Saberniak.

Figure 4

Reduced longitudinal function in a patient with AC (TAPSE: 17 mm, s′ tricuspid annulus: 9.5 cm/s).

Figure 5

Reduced RV strain and increased mechanical dispersion in an AC patient. Vertical white markers indicate peak longitudinal strain and horizontal white arrows indicate the time from R on QRS to peak longitudinal strain. (A) Six RV segments including the interventricular septum. Right ventricular global strain is calculated as average peak strain rom six RV segments. Mechanical dispersion is calculated as standard deviation of time-to-peak longitudinal strain in six RV segments. (B) RV free wall strain is calculated as average peak strain from three RV free wall segments. Courtesy: Dr Ø.H. Lie.

Figure 6

Mechanical dispersion defined as standard deviation of time to LV peak longitudinal strain in AC. Compared with the healthy volunteer (left panel), the asymptomatic mutation carrier (mid panel) shows increased mechanical dispersion and reduced RV free wall strain. The AC patient with overt disease (right panel) has most pronounced mechanical dispersion and worse RV free wall strain (modified from Sarvari et al.²⁵).

Figure 7

3D TTE images showing the potential of this technique to diagnose AC: subtricuspid valve aneurysm. Courtesy: Dr D. Muraru.

Figure 8

3D TTE images showing the potential of this technique to diagnose AC: multiplanar display of the subtricuspid aneurism. Left upper:  4CH, right upper: 2CH; left lower: long axis; right lower: short axis at the level of the aneurysm (blue-dotted line on longitudinal views). Yellow arrows indicate the location of the aneurysm. Courtesy: Dr D. Muraru.

Figure 9

3D TTE images showing the potential of this technique to diagnose AC: 12 slice display of the subtricuspidal aneurysm. Yellow arrow indicates the location of the aneurysm. Courtesy: Dr D Muraru.

Figure 10

3D TTE images showing the potential of this technique to diagnose AC: localized aneurysm. Left panel: RV focused apical 4CH view = normal; central panel: cropped longitudinal apical view showing the localized aneurysm (yellow arrows); right panel: en face view of the entry orifice of the aneurysm. Courtesy: Dr D. Muraru.

Figure 11

Longitudinal (upper panels) and transversal (lower panels) cut planes showing the localized aneurysm (asterisk). Courtesy: Dr D. Muraru.

Figure 12

CMR RVOT in and out view, cine image in end diastole (A) and end systole (B). Micro-aneurysms of the RVOT and RV diaphragmatic wall are present (white arrows).

Figure 13

CMR four-chamber view, LGE image (A) and corresponding image in cine end-diastolic frame (B). The white arrow shows myocardial LGE (fibrosis) of the RV free wall.