 !

"

Sub menu

Arrhythmogenic right
ventricular cardiomyopathy
An article from the e-journal of
the ESC Council for Cardiology
Practice
Vol. 1, N° 5 - 27 Nov 2002

Prof. Dudley Pennell , FESC

Arrhythmogenic right ventricular

cardiomyopathy (ARVC), also known as
arrhythmogenic right ventricular dysplasia,
is a disorder of the myocardium
characterized by fatty or fibrofatty
infiltration of the right ventricle (RV),
dilatation and dysfunction of the right
ventricle as well as electrical instability,
ventricular arrhythmia of right ventricular
origin, heart failure and sudden death. The
diagnosis is based on major and minor
criteria and the imaging techniques are
useful, among them cardiovascular
magnetic resonance allows for the best
visualization of the heart.

ARVC is a disorder of the myocardium of unknown

origin. The incidence and prevalence are unknown but
ARVC is a well recognised cause of sudden death in
adolescents and young people. There is a familial
occurrence in about 50% of cases, with autosomal
dominant inheritance with variable penetrance and
polymorphic phenotypic expression. Several genetic
disorders have been identified on chromosomes 14 and
3 and the disease is more frequent in males.

Regarding its physiopathologic mechanism, several

hypothesis have been made. It has been considered an
increase in apoptosis with fibrofatty replacement of
the RV leading to electrical instability and arrhythmias.
The disontogenic theory suggests that ARVC is a
congenital disease with abnormal development of the
right ventricle. A metabolic disorder is considered to
affect the RV in the degenerative theory. Lastly, it has
been suggested that the replacement by fibrofatty
tissue would be the healing process of an episode of
myocarditis. Two morphologic variants have been
described: the fatty form, confined to the RV and
without wall thinning, and the fibrofatty form, with
frequent LV involvement, wall thinning and aneurysms
(1) .

The clinical manifestations may vary, as there is a wide

spectrum of different abnormalities which ranges from
an asymptomatic form with ventricular ectopics to
heart failure and sudden death in the young. Symptoms
are due to arrhythmias originating in the affected
myocardium, including ectopic beats, ventricular
tachycardia, atrial and ventricular fibrillation.
Generally, patients present with palpitations, syncope
and sometimes sudden death. It is considered that
20% of sudden death in subjects younger than 35,
specially when related to exercise, are due to ARVC.
The EKG is abnormal in 90% of cases, showing both
repolarization and depolarization alterations in right
precordial leads, intraventricular conduction delay,
complete or incomplete right bundle branch block,
widening of the QRS complex (>110ms) in right
precordial leads and epsilon waves just beyond the
QRS complex in lead V1 (in 10%).

According to the Task Force Report (2) , the diagnosis

is based on the detection of structural, histologic,
electrocardiographic, arrhythmic and genetic factors.
Several diagnostic criteria have been obtained from
clinical characteristics, conventional, signal averaged
and 24-hour EKG, exercise tolerance test, imaging
techniques including echocardiography, cardiovascular
magnetic resonance (CMR) and ultrafast CT,
electrophysiologic study, MUGA, cardiac
catheterization and endomyocardial biopsy. The
fundamental feature is the presence of structural and
functional alterations of the right ventricle and the
diagnosis is made when the patient presents two major
criteria, one major and two minor criteria, or four
minor criteria (see table).

The standard of reference for diagnosis of ARVC is the

histologic demonstration of transmural fibrofatty
replacement of the right ventricular myocardium at
autopsy or surgery, with criteria of greater than 3% fat
and less than 40% fibrous tissue replacing the
myocardial muscle. Endomyocardial biopsy is not
sensitive enough, as the specimens are generally
obtained from the septum and the pathologic changes
of ARVC are segmental and occur mainly in the RV free
wall. And also because a variable degree of fatty
infiltration of the right ventricle is present in normal
hearts of elderly people.

Imaging techniques are of great use in the diagnosis of

ARVC. CMR appears to be the optimal technique, as it
allows a three-dimensional evaluation of RV anatomy
and function (RV free wall, inflow and outflow tracts),
with an excellent spatial resolution, accuracy and
reproducibility. The typical features of ARVC detected
by CMR are:

1) global RV dilatation, including RVOT (severe: major

criterion, mild: minor criterion)

2) global RV systolic (major criterion) and diastolic

(minor criterion) dysfunction

3) RV wall thinning (major criterion)

4) localised aneuryms of RV and RVOT (major

criterion)

5) fatty infiltration, usually visible with high signal

intensity on T1-weighted images and recently shown
also with helical CT (3)

6) regional wall motion abnormalities of the inferior

and anterior RV free wall and of the RV outflow tract
(minor criterion).

Also, features of high risk detectable by either

echocardiography or CMR, are severe alteration of the
right ventricle with decreased ejection fraction and
involvement of the left ventricle (4).

Diagnosis of ARVC

Global / regional
dysfunction and
structural alterations
(imaging techniques)

Severe right ventricular

dilatation Decrease in
RV EF with
normal/nearly normal
Major LV EF
RV localised aneurysms
(akinetic / diskinetic
areas with systolic
bulging)
Severe RV segmental
dilatation

Mild global RV dilatation

and/or decrease in RV
Minor EF with normal LV
Mild RV segmental
dilatation
Regional RV hypokinesia

Tissue characterization
of the RV myocardium

Major
Fatty infiltration of the RV
myocardium

Minor

Repolarization
abnormalities

Major

Inverted T waves in V2-V3

Minor
(if age > 12 yrs, in the
absence of right bundle
branch block)

Depolarization/conduction
abnormalities

Major Epsilon waves, widening of

the QRS complex (>110ms) in
V1-V3

Minor
Late potentials

Arrhythmias

Major

Sustained/non-
sustained ventricular
tachycardia with left
Minor bundle branch block
morphology

Frequent ventricular
ectopics
(>1000/24hours)

Family history

Major Family history with

anatomic confirmation
(autopsy, surgery)

Sudden death in <35

Minor years, with suspicion of
ARVC
Family history of ARVC
(clinical diagnosis)

The differential diagnosis of ARVC include idiopathic

dilated cardiomyopathy and the Uhl anomaly,
characterized by a thin right ventricle due to virtually
absence of myocardial muscle fibers, with no gender
predilection or familial occurrence.

There is no curative treatment, instead, the aim is to

detect patients at high risk and prevent complications.
The four therapeutic options are pharmacological
agents as first choice (ACEI, anticoagulants, diuretics
and antiarrhythmic agents as sotalol, verapamil,
betablockers, amiodarone, flecainide), catheter
ablation if the patient is refractory to drug treatment
or the disease is localized, implantable cardioverter
defibrillators in refractory patients at risk for sudden
death and surgery as the last option, consisting on
ventriculotomy and disconnection of the RV free wall
or cardiac transplantation if severe terminal heart
failure.

ARVC is a progressive disease. Four phases have been

described in the disease, silent, appearance of
arrhythmias, appearance of structural anomalies, heart
failure. It leads to RV failure if sudden death does not
occur before. The death rate is approximate 2.5% per
year (5) .

The content of this article reflects the personal opinion

of the author/s and is not necessarily the official
position of the European Society of Cardiology.

# References

1. Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, et al. Spectrum of

clinicopathologic manifestations of arrhythmogenic right ventricular

cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol. 1997; 30: 1512-20.

2. McKenna WJ, Thiene G, Nava A, Fontaliran F. Blomstrom-Lundqvist C, Fontaine G, et al on

behalf 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, supported by the Schoepfer Association. Diagnosis of

Arrhythmogenic Right Ventricular Dysplasia/cardiomyopathy. Br Heart J 1994; 71: 215-218.

3. Kimura F, Sajai F, Sakomura Y, Fujimura M, Ueno E, Matsuda N et al. Helical CT features of

arrhythmogenic right ventricular cardiomyopathy. Radiographics 2002; 22: 1111-24.

4. Peters S, Peters H, Thierfelder L. Risk stratification of sudden cardiac death and


malignant ventricular arrhythmias in right ventricular dysplasia-cardiomyopathy. Int J

Cardiol 1999; 71: 243-50.

5. Fontaine G, Gontaliran F, Hebert J et al. Arrhythmogenic right ventricular dysplasia. Annu

Rev Med 1999; 50: 17-35.

VolumeNumber:

Vol1 N°07

$ Notes to editor

Prof. D.J. Pennell

London, United Kingdom
Past-Chairman of the ESC Working Group on
Cardiovascular Magnetic Resonance

The content of this article reflects the personal opinion

of the author/s and is not necessarily the official
position of the European Society of Cardiology.

Our mission: To reduce the burden of

cardiovascular disease

About the ESC

Who We Are
What We Do
Governance
Our Offices
ESC Statutes & Reports

Press and Media

Latest News
ESC TV
Press Releases
ESC Press Office
Exclusive for on-site Press

Information
Facilities at the Heart House
Jobs in Cardiology
Terms & Conditions
ESC Policies
Update your cookie settings

Follow us

% & ' ( )
* Contact us

© 2018 European Society of Cardiology. All rights reserved