Fact-sheet: Arythmogenic right ventricul dysplasia


Updated on 02/06/2026 at 4:49 PM

Note : 0/10

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Definition

Chronic non-ischemic congenital cardiomyopathy due to fibro-fatty infiltration of the RV myocardium

Leading cause of sudden death in young athletes

Diagnosis based on a combination of findings: MRI, TTE, ECG, and clinical history

Epidemiology: prevalence 1/5,000, sex ratio 3/1 (M/F)

Annual mortality 2.5% (22% of sudden deaths <35 years)

Multiple hypotheses, including structural abnormalities of desmosomes (intercellular junctions)

Genetics: autosomal dominant, 5 genes identified to date, found in 30-50% of patients

Clinical features

Ventricular extrasystoles or ventricular tachycardia with left bundle branch block morphology, sudden death, atypical chest pain, paroxysmal dyspnea, RV dysfunction

MRI

MRI: reference examination for evaluation of the RV

Morphological assessment

  • T1 "black blood" IR sequence

- Non-segmental subepicardial hyperintensity = dysplastic fatty infiltration

- Location: RV free wall and pulmonary infundibulum, extending to the septum and LV apex

- Low specificity (70%) and poor interobserver reproducibility (present in healthy subjects [atrioventricular and interventricular grooves] and in other cardiomyopathies [MI, amyloidosis, myocarditis...])

  • "White blood" cine sequence

- Localized thinning of the RV wall < 2 mm

- Focal hypertrophy

- Dysplastic trabecular pattern (40%): "stacked coin" appearance

Functional assessment

  • Global: RV dilation, RVEF impairment without other etiologies
  • Segmental: triangle of dysplasia (pulmonary infundibulum, RV apex, RV free wall)

- Hypokinesia

- Akinesia: immobility between diastole and systole over a 1 cm segment

- Dyskinesia: systolic bulging >1 cm

- Saccular aneurysm: permanent bulging

- Contractile asynchrony: asymmetric contraction between segments

Delayed enhancement assessment

- Related to trapped gadolinium associated with fibrosis

- Predictive factor for arrhythmic events

A normal MRI does not rule out the diagnosis: follow-up imaging is warranted

Management

- Beta-blocker therapy

- Cessation of athletic activity: increased risk of arrhythmia and sudden death

- Defibrillator implantation

Classification

2010 modified Task Force criteria:

Major criteria

- Severe RV segmental wall motion abnormalities: dyskinesia or dyssynchronous contraction

AND one of the following criteria:

- Indexed EDV ≥110 mL/m² (M) ≥100 mL/m² (F)

- RVEF ≤ 40%

Minor criteria

- Severe RV segmental wall motion abnormalities: dyskinesia or dyssynchronous contraction

AND one of the following criteria:

- Indexed EDV:

110 ≤ EDVi (M)

90 ≤ EDVi (F) < 100 mL/m²

- 40% ≤ RVEF < 45%