Arrhythmogenic Right Ventricular Cardiomyopathy

Author(s)	J.S.S.G. de Jong, MD
Moderator	J.S.S.G. de Jong, MD
Supervisor
some notes about authorship

ECG with an epsilon wave in V1

A section throughout the heart of an ARVC patient. (A) Transmural fatty replacement of the right ventricular free wall. (B) Myocardial atrophy is confined to the right ventricle and substantially spares the interventricular septum as well as the left ventricular free wall. [1] Reproduced with permission from BMJ Publishing Group Ltd.

Arrhythmogenic Right Ventricular Cardiomyopathy, (ARVC, or ARVD: Arrhythmogenic Right Ventricular Disease) is characterized by fatty replacement and fibrosis of the heart. Most commonly the right ventricle apex and outflow tract are involved. However the left ventricle can be affected to.[2]

As a result of the fatty replacement and fibrosis, ventricular arrhythmias are common in this disease and can lead to palpitations, syncope and sudden death. At more advanced ages right ventricular pump failure can occur.

The diagnosis is based on major and minor criteria, as published by the European Society of Cardiology.[3]

ARVC is a progressive disease. The incidence is estimated to be 1:3.000-1:10.000. Manifestations are usually seen in teenagers. Although the diagnosis is more often made in athletes, sports are not thought to have a causative relationship with the disease. ARVD can occur in families; more than 9 different chromosomal defects have been described, most often with autosomal dominant inheritance.

One unique form of ARVD, called Naxos disease (after the Greek island where it was first diagnosed), has an autosomal recessive pattern of inheritance.

Diagnosis ARVC is a difficult diagnosis to make. Therefore, the European Society of Cardiology has created a list of diagnostic criteria for the diagnosis of ARVC[3] (see table).

Major diagnostic criteria for Arrhythmogenic Right Ventricular Cardiomyopathy[3]
Familial disease confirmed at necroscopy or surgery Severe dilatation and reduction of right ventricular ejection fraction with no (or only mild) LV impairment Localized right ventricular aneurysms (akinetic or diskinetic areas with diastolic bulging) Severe segmental dilataion of the right ventricle Fibrofatty replacement of myocardium on endomyocardial biopsy
Diagnostic criteria that can be diagnosed on the ECG
(major) Epsilon wave or localized prolongation (>110ms) of the QRS complex in right precordial leads (V1-V3) (minor) Inverted T waves in right precordial leads (V2 and V3) (people aged more than 12 yr; in absence of RBBB (minor) Late potentials (signal averaged ECG) (minor) Left bundle branch block type ventricular tachycardia (sustained and non-sustained) (ECG, Holter, exercise testing (minor) Frequent ventricular extrasystoles (more than 1000/24h) (Holter)

In 2009 three more criteria were added[4]:

• Terminal activation duration of QRS≥55ms
• ventricular tachycardia with left bundle branch block morphology and superior axis, and
• genetic criteria.

Treatment focuses on avoiding complications.[5]

• Medication:
  • Anti-arrhythmics: Sotalol better than Amiodarone.
  • ACE-inhibitors to prevent cardiac remodelling
• ICD implantation is recommended for the prevention of sudden cardiac death in patients with ARVC with documented sustained VT or VF who are receiving chronic optimal medical therapy.
• ICD implantation can be considered for the prevention of sudden cardiac death in patients with ARVC with extensive disease, including those with left ventricular involvement, 1 or more affected family member with SCD (Sudden Cardiac Death), or undiagnosed syncope when ventricular tachycardia or ventricular Fibrillation has not been excluded as the cause of syncope, who are receiving chronic optimal medical therapy, and who have reasonable expectation of survival with a good functional status for more than 1 y.
• Radiofrequency ablation can be useful as adjunctive therapy in management of patients with ARVC with recurrent ventricular tachycardia, despite optimal antiarrhythmic drug therapy.

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Table 1

Table 1. Comparison of Original and Revised Task Force Criteria

Original Task Force Criteria	Revised Task Force Criteria
I. Global or regional dysfunction and structural alterations∗
Major
Severe dilatation and reduction of RV ejection fraction with no (or only mild) LV impairment Localized RV aneurysms (akinetic or dyskinetic areas with diastolic bulging) Severe segmental dilatation of the RV	By 2D echo: 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) or fractional area change ≤33% By MRI: Regional RV akinesia or dyskinesia or dyssynchronous RV contraction and 1 of the following: Ratio of RV end-diastolic volume to BSA ≥110 mL/m2 (male) or ≥100 mL/m2 (female) or RV ejection fraction ≤40% By RV angiography: Regional RV akinesia, dyskinesia, or aneurysm
Minor
Mild global RV dilatation and/or ejection fraction reduction with normal LV Mild segmental dilatation of the RV Regional RV hypokinesia	By 2D echo: 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% 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 <110 mL/m2 (male) or ≥90 to <100 mL/m2 (female) or RV ejection fraction >40% to ≤45%
II. Tissue characterization of wall
Major
Fibrofatty replacement of myocardium on endomyocardial biopsy	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
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. Repolarization abnormalities
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 right bundle-branch block QRS ≥120 ms)
Minor
Inverted T waves in right precordial leads (V2 and V3) (people age >12 years, in absence of right bundle-branch block)	Inverted T waves in leads V1 and V2 in individuals >14 years of age (in the absence of complete right bundle-branch block) 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 right bundle-branch block
IV. Depolarization/conduction abnormalities
Major
Epsilon waves or localized prolongation (>110 ms) of the QRS complex in right precordial leads (V1 to V3)	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)
Minor
Late potentials (SAECG)	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) ≥114 ms Duration of terminal QRS <40 µV (low-amplitude signal duration) ≥38 ms Root-mean-square voltage of terminal 40 ms ≤20 µV Terminal activation duration of QRS ≥55 ms 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 right bundle-branch block
V. Arrhythmias
Major
	Nonsustained 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)
Minor
Left bundle-branch block–type ventricular tachycardia (sustained and nonsustained) (ECG, Holter, exercise) Frequent ventricular extrasystoles (>1000 per 24 hours) (Holter)	Nonsustained or sustained ventricular tachycardia of RV outflow configuration, left bundle-branch block 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 24 hours (Holter)

References

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