Arrhythmogenic Right Ventricular Cardiomyopathy

8 Pages·2020·0.41 MB·English

Arrhythmogenic Right Ventricular Cardiomyopathy
in Athletes: Diagnosis, Management,
and Recommendations for Sport Activity

Cristina Basso, MD, PhDa, Domenico Corrado, MD, PhDb,
Gaetano Thiene, MD, FRCP Hona,*

aDepartment of Medical-Diagnostic Sciences and Special Therapies, University of Padua Medical School,
Via A. Gabelli 61, 35121 Padova, Italy
bDepartment of Cardio-Thoracic and Vascular Sciences, University of Padua Medical School,
Via N. Giustiniani 2, 35128 Padova, Italy

Arrhythmogenic
right
ventricular
cardio-
myopathy/dysplasia (ARVC/D) is an inherited
heart muscle disease that predominantly affects
the right ventricle and is characterized pathologi-
cally by progressive replacement of right ven-
tricular myocardium with fibrofatty tissue [1–10].
Clinically, the disease presents with myocardial
electrical instability leading to ventricular tachy-
cardia or ventricular fibrillation which may precip-
itate cardiac arrest, particularly during physical
exercise [11].
This article examines the role of ARVC/D in
causing sudden death in young competitive athletes
and suggests a prevention strategy based on iden-
tification of affected athletes at preparticipation
screening. Systematic cardiovascular screening
(including 12-lead ECG) of all subjects embarking
in sports activity has the potential to identify those
athletes at risk and to reduce mortality [12,13].
The advent of molecular genetics has provided
new insights in understanding the etiopathogenesis
of ARVC/D, showing that it is a desmosomal
disease resulting from defective cell adhesion

proteins such as desmoplakin, plakoglobin, plako-
philin-2, desmoglein-2, and desmocollin-2 [14–18].
It has been postulated that the lack of the protein
or the incorporation of mutant protein into cardiac
desmosomes may provoke remodeling with detach-
ment of myocytes at the intercalated disks, parti-
cularly under the condition of mechanical stress
during training and competitive sports activity
[19,20]. As a consequence, there is progressive
myocyte death with subsequent repair by fibrofatty
replacement. Life-threatening ventricular arrhy-
thmias such as ventricular tachycardia and fibrilla-
tion may occur during the ‘‘hot phase’’ of myocyte
death or later in the form of a scar-related macro-
reentrant mechanism [21].

Arrhythmogenic right ventricular
cardiomyopathy/dysplasia: a major cause
of sudden death in young athletes

Systematic monitoring and pathologic investi-
gation of sudden deathin young people andathletes
of the Veneto region of Italy has shown that
ARVC/D is the most common pathologic sub-
strate, accounting for nearly one fourth of fatal
events on the athletic field [11,12,22]. The incidence
of sudden death from ARVC/D in athletes is esti-
mated to be 0.5 cases per 100,000 persons per year
(Fig. 1). In the authors’ experience, sudden death
victims with ARVC/D have all been male with
a mean age of 22.6 � 4 years [22].

This work was supported by the European Commis-
sion
ARVC/D
Project,
Brussels,
Veneto
Region,
Venice, and Telethon, Rome; Cariparo Foundation,
Pedova; Ministry of Health, Rome.
* Corresponding author.
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