Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiomyopathy that predominantly affects the right ventricle. With a prevalence in the range of 1:5000 to 1:2000 persons, ARVC is one of the leading causes of sudden cardiac death in young people and in athletes.

Criteria for the Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy

I. Global and/or regional dysfunction and structural alterations

A. Major

1. By 2-dimensional echocardiogram: regional RV akinesia, dyskinesia, or aneurysm and 1 of the following (end diastole):
   • PLAX RVOT ≥32 mm (corrected for body size [PLAX/BSA] ≥19 mm/m2)
   • PSAX RVOT ≥36 mm (corrected for body size [PSAX/BSA] ≥21 mm/m2)
   • O fractional area change <33%
2. By MRI: regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following:
   • Ratio of RV end-diastolic volume to BSA ≥110mL/m2 (male) or ≥100mL/m2 (female)
   • Or RV ejection fraction <40%
3. By RV angiography: regional RV akinesia, dyskinesia, or aneurysm

B. Minor

1. By 2-dimensional echocardiogram :regional RV akinesia or dyskinesia and 1 of the following (end diastole):
   • PLAX RVOT ≥29 to <32 mm (corrected for body size [PLAX/BSA] ≥16 to <19 mm/m2)
   • PSAX RVOT ≥32 to <36 mm (corrected for body size [PSAX/BSA] ≥18 to <21 mm/m2)
   • Or fractional area change >33% to ≤40%
2. By MRI: regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following:
   • Ratio of RV end-diastolic volume to BSA ≥100 to <110mL/m2 (male) or ≥90 to <100mL/m2 (female)
   • Or RV ejection fraction >40% to ≤45%

II. Tissue characterisation of the wall

1. Major: Residual myocytes <60% by morphometric analysis (or <50% if estimated), with fibrous replacement of the RV free wall myocardium in >1 sample, with or without fatty replacement of tissue on endomyocardial biopsy
2. Minor: Residual myocytes 60% to 75% by morphometric analysis (or 50% to 65% if estimated), with fibrous replacement of the RV free wall myocardium in >1 sample, with or without fatty replacement of tissue on endomyocardial biopsy

III.Repolarisation abnormalities

1. Major Inverted T waves in right precordial leads (V1, V2, and V3) or beyond in individuals >14 years of age (in the absence of complete RBBB QRS >120ms)
2. Minor
   • Inverted T waves in leads V1 and V2 in individuals >14 years of age (in the absence of complete RBBB) or in V4, V5, or V6
   • Inverted T waves in leads V1, V2, V3, and V4 in individuals >14 years of age in the presence of complete RBBB

IV. Depolarisation/conduction abnormalities

1. Major: Epsilon wave (reproducible low-amplitude signals between end of QRS complex to onset of the T wave) in the right precordial leads (V1 to V3)
2. Minor:
   • Late potentials by SAECG in ≥1 of 3 parameters in the absence of a QRS duration of ≥110 ms on the standard ECG: filtered QRS duration (fQRS) ≥114ms; duration of terminal QRS <40mV (low-amplitude signal duration) ≥38ms; root-mean-square voltage of terminal 40ms <20µV
   • Terminal activation duration of QRS ≥55ms measured from the nadir of the S wave to the end of the QRS, including R’, in V1, V2, or V3, in the absence of complete RBBB

V. Arrhythmias

1. Major: Non sustained or sustained ventricular tachycardia of left bundle-branch morphology with superior axis (negative or indeterminate QRS in leads II, III, and aVF and positive in lead aVL)
2. Minor:
   • Non sustained or sustained ventricular tachycardia of RVOT configuration, LBBB morphology with inferior axis (positive QRS in leads II, III, and aVF and negative in lead aVL) or of unknown axis
   • >500 ventricular extrasystoles per 24h (Holter)

VI. Family history

1. Major:
   • ARVC/D confirmed in a first-degree relative who meets current Task Force criteria
   • ARVC/D confirmed pathologically at autopsy or surgery in a first-degree relative
   • Identification of a pathogenic mutation categorized as associated or probably associated with ARVC/D in the patient under evaluation
2. Minor:
   • History of ARVC/D in a first-degree relative in whom it is not possible or practical to determine whether the family member meets current Task Force criteria
   • Premature sudden death (<35years of age) due to suspected ARVC/D in a first-degree relative
   • ARVC/D confirmed pathologically or by current Task Force criteria in second-degree relative

Abbreviations: ARVC/D, arrhythmogenic right ventricular cardiomyopathy/dysplasia; aVF, augmented voltage unipolar left foot lead; aVL, augmented voltage unipolar left arm lead; BSA, body surface area; ECG, electrocardiogram; LBBB, left bundle branch block; MRI, magnetic resonance imaging; PLAX, parasternal long-axis view; PSAX, parasternal short-axis view; RBBB, right bundle branch block; RV, right ventricular; RVOT, right ventricular out flow tract; SAECG, signal-averaged electrocardiogram.

 

Interpretation:

• Definite diagnosis: two major, or one major and two minor or four minor criteria from different diagnostic categories.
• Borderline diagnosis: one major and one minor or three minor criteria from different diagnostic categories.
• Possible diagnosis: one major or two minor criteria from different diagnostic categories.

 

References:

1. Oomen AWGJ, Semsarian C, Puranik R, Sy RW. Diagnosis of Arrhythmogenic Right Ventricular Cardiomyopathy: Progress and Pitfalls. Heart Lung Circ. 2018 Nov;27(11):1310-1317. [Medline]
2. Haugaa KH, Haland TF, Leren IS, Saberniak J, Edvardsen T. Arrhythmogenic right ventricular cardiomyopathy, clinical manifestations, and diagnosis. Europace. 2016 Jul;18(7):965-72. [Medline]

 

Created: Aug 02, 2019.