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

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]

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.

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. 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
Major
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%

References

1. Corrado D, Basso C, and Thiene G. Arrhythmogenic right ventricular cardiomyopathy: diagnosis, prognosis, and treatment. Heart. 2000 May;83(5):588-95. DOI:10.1136/heart.83.5.588 |
2. Corrado D, Basso C, and Thiene G. Arrhythmogenic right ventricular cardiomyopathy: an update. Heart. 2009 May;95(9):766-73. DOI:10.1136/hrt.2008.149823 |
3. McKenna WJ, Thiene G, Nava A, Fontaliran F, Blomstrom-Lundqvist C, Fontaine G, and Camerini F. Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy. Task Force of the Working Group Myocardial and Pericardial Disease of the European Society of Cardiology and of the Scientific Council on Cardiomyopathies of the International Society and Federation of Cardiology. Br Heart J. 1994 Mar;71(3):215-8. DOI:10.1136/hrt.71.3.215 |
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6. Cox MG, van der Smagt JJ, Noorman M, Wiesfeld AC, Volders PG, van Langen IM, Atsma DE, Dooijes D, Houweling AC, Loh P, Jordaens L, Arens Y, Cramer MJ, Doevendans PA, van Tintelen JP, Wilde AA, and Hauer RN. Arrhythmogenic right ventricular dysplasia/cardiomyopathy diagnostic task force criteria: impact of new task force criteria. Circ Arrhythm Electrophysiol. 2010 Apr;3(2):126-33. DOI:10.1161/CIRCEP.109.927202 |