The following are 10 points to remember from this review of arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D):

1. The hallmark histological abnormality in ARVC/D is replacement of myocytes by fibrous or fibro-adipose tissue in the right ventricular (RV) free wall; fatty infiltration is not a criterion for the histological diagnosis of ARVC/D.
2. The diagnostically useful electrocardiogram (ECG) findings are right precordial T-wave inversion, epsilon waves, and prolongation of the terminal portion of the QRS complex; the signal-averaged ECG enhances the identification of delayed ventricular activation by detecting late potentials.
3. Ventricular arrhythmias typically have a left bundle branch block morphology, QRS transition in V₆, and notching of the QRS in ≥1 leads.
4. Specific but insensitive echocardiographic diagnostic criteria are regional RV wall motion abnormalities, RV dilatation, and/or global RV systolic dysfunction.
5. The major magnetic resonance imaging criteria are segmental RV wall motion abnormalities and either an RV ejection fraction ≤40%, or an RV end-diastolic volume ≥110 ml/m² (men) or ≥100 ml/m² (women).
6. The most common cause of ARVC/D is an abnormality in desmosomal proteins, which play a major role in intercellular adhesion.
7. Approximately 50% of probands are genotype-negative.
8. A desmosomal gene mutation can be identified in 33-66% of ARVC/D probands and most commonly involves the PKP₂ gene, typically inherited in autosomal dominant fashion.
9. Desmosomal mutations have low penetrance and only approximately one-third of relatives of probands who are genotype-positive also are phenotype-positive.
10. Homozygous, compound heterozygous, or double heterozygous genetic status is associated with higher penetrance, earlier onset of ventricular arrhythmias, and a higher risk of left ventricular involvement/heart failure and/or sudden death.

Clinical Topics: Arrhythmias and Clinical EP, Heart Failure and Cardiomyopathies, Noninvasive Imaging, Implantable Devices, EP Basic Science, Genetic Arrhythmic Conditions, SCD/Ventricular Arrhythmias, Atrial Fibrillation/Supraventricular Arrhythmias, Acute Heart Failure, Echocardiography/Ultrasound, Magnetic Resonance Imaging

Keywords: Adipose Tissue, Arrhythmias, Cardiac, Arrhythmogenic Right Ventricular Dysplasia, Bundle-Branch Block, Cardiomyopathies, Death, Sudden, Desmosomes, Diagnostic Imaging, Dilatation, Echocardiography, Electrocardiography, Genetics, Genotype, Heart Failure, Magnetic Resonance Imaging, Mutation, Stroke Volume

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