Download Sudden death due to arrhythmogenic right ventricular

Rom J Leg Med [22] 85-88 [2014]
DOI: 10.4323/rjlm.2014.85
© 2014 Romanian Society of Legal Medicine Sudden death due to arrhythmogenic right ventricular cardiomyopathy
associated with hemodynamically significant myocardial bridging
Silvia Dermengiu1, Mariana Costache2,*, Sorin Hostiuc1, Lucian Zarma3, Mihai Ceaușu1
_________________________________________________________________________________________
Abstract: Arrhythmogenic right ventricular cardiomyopathy is a genetically transmitted cardiac disorder, characterized
by increased myocardial instability and an increased risk for severe ventricular arrhythmias and sudden death. Histologically
there are two main types: fatty, associated with sudden death at rest, and fibrofatty, with sudden death during exercise.
The purpose of this case report is to present a sudden death caused by an association of a fibrofatty type of arrhythmogenic right
ventricular cardiomyopathy in a young athlete, associated with a hemodynamically significant myocardial bridging on the left
anterior descending artery, the latter causing an atypical distribution pattern of the fibrofatty infiltration, that may pose diagnostic
difficulties.
Key Words: Arrhythmogenic right ventricular cardiomyopathy, myocardial bridging, sudden death, sudden cardiac
death in athletes.
A
rrhythmogenic
right
ventricular
cardiomyopathy (ARVC) is a genetically
transmitted cardiac disorder, characterized by increased
myocardial instability and an increased risk for severe
ventricular arrhythmias and sudden death [1-6]. The main
cause of the disease appears to be a desmosome defect
causing ultrastructure changes including remodeling
of the intercalated discs, increased intercellular gap,
increased desmosome length, and paler desmosomes.
These defective desmosomes can lead to myocyte
uncoupling, especially during increased myocardial stress
[7]. This in turn can cause unspecific changes that include
inflammation, fibrosis, apoptosis, and adipocytosis [7]
that can lead to an earlier onset of the clinical disease, and
an increased risk of sudden death in patients with severe,
sustained, myocardial stress like professional athletes [8].
The purpose of this article is to present the case
of a professional athlete whose death was sudden, and
caused by an undiagnosed ARVC.
CASE REPORT
A 25 year-old man collapsed on the football field
and was pronounced dead by the ambulance about 30
minutes later. He has a professional football player until
a year ago, when he interrupted this activity as he was
diagnosed with hepatitis. Six months ago he had another
blackout on the football field. As he was feeling often tired
and had thoracic pains, he went to a cardiology hospital,
seven and one month before death. Both examination
revealed bradycardia, a QRS angle of 90 degrees, EVs,
diffuse hypovoltage, and repolarization abnormalities
in the anterior territory (V1-V4), and flat T waves in
all derivations. The ECG suggested a high probability
1) “Mina Minovici” National Institute of Legal Medicine, Bucharest, Romania
2) “Carol Davila” University of Medicine and Pharmacy, Bucharest, Romania
* Corresponding author
3) “C.C. Iliescu” Institute of Cardiology, Bucharest, Romania
85
Dermengiu S. et alSudden
death
due
to
arrhythmogenic
right
ventricular
cardiomyopathy
of cardiomiopathy, either primary or ischemic, with a
possible pericardial involvement, and the physicians
recommended
cardiac
echography,
myocardial
scintigraphy, cardiac MRI, and coronarography. The
patient refused these additional examinations. During
the forensic autopsy was identified a left ventricle
with an intense pale area, subendocardial, at the level
of the interventricular septum. The thickness of the
interventricular septum was 1.6-1.8 cm. The myocardial
tissue contained numerous yellowish stripes, with areas of
confluence and dissection (Figure 1). The right ventricle
had a thickness of 0.1-0.3 cm, with an irregular pattern of
the wall, with significant replacement of the myocardial
tissue with adipose formations (Figure 1). The left anterior
descendent coronary artery had a significant myocardial
bridging, starting at about 2 cm from the origin and
extending down about 7 cm, with a thickness varying
from 0.2 to 0.6 cm (Figure 2). The circumflex artery
finishes on the pulmonary face of the left ventricle. The
right coronary artery, having a normal diameter, without
atherosclerosis, ends on the diaphragmatic surface, in the
superior third of the posterior interventricular groove.
Cardiac histological examination showed interstitial
vascular swellings, with hypoxic myocardial lesions,
significant subepicardial lipomatosis, with extension in
the adjacent myocardium (Figure 3). Trichrome Masson
stain showed mild-moderate interstitial and perivascular
lipomatosis (Figure 4).
Figure 1. Lipomatous infiltration of the myocardium.
Figure 2. Hemodynamically significant myocardial bridging
on the Left Anterior Descending Artery.
Figure 3. Fatty infiltration of the right ventricle, with ischemic
areas. HE, 50X.
Figure 4. Fibrofatty infiltration. Masson Trichrome, 50X.
86
DISCUSSIONS
Even if the sudden deaths of athletes is a
considered a rare phenomenon, with an estimated
prevalence of between less than 1/100.000 cases [9] and
about 3.5/100.000 cases [10], recent reports suggests that
the cardiovascular risks associated with professional
sports are significantly underestimated [11]. The
presence of structural heart diseases, like hypertrophic
Romanian Journal of Legal Medicine cardiomyopathy or ARVC, even if only probable,
should forbid the practice of performance sports [12].
As ARVC is one of the most frequent causes of sudden
death in professional athletes [12], every athlete should
be routinely checked for it, especially as most screening
tests are readily available. The Recommendations of the
European Society of Cardiology for screening professional
athletes for ARVC include the following:
• 12-Lead ECG. The presence of cardiac
arrhythmias in a young athlete should always be further
checked. In ARVC ECG abnormalities are present in
more than 50% of patients, the most common being
prolonged QRS (>110ms) with a pattern of right bundle
branch block and inverted T-waves in right precordial
leads, ε wave, premature ventricular complexes or
ventricular tachycardia, usually with a left bundle branch
block pattern and vertical axis[12].
• Echocardiography: enlarged right ventricle
cavity, wall motion abnormalities, and segmental
morphological abnormalities, including thinning,
bulging, or aneurysms of the right ventricle wall [12].
In our case the ECG suggested the probability
of a severe cardiovascular disorder (most likely a
cardiomyopathy), that would normally forbid that person
to go on the football court. However, the patient has not
followed the medical recommendation, nor in restricting
strenuous physical activities, nor in further researching
the cause of the electrical abnormalities.
Vol. XXII, No 2(2014)
Histologically, ARVC has two main phenotypes:
fatty (lipomatous) and fibrofatty, In the fatty variant,
there is identifiable a transmural adiposus infiltration,
with pseudo-hypertrophy of the right ventricle, affecting
mostly the anterolateral and infundibular regions of
the right ventricle. The postero-inferior part of the
right ventricle and the left ventricle are usually normal.
Histologically there is identifiable a fatty infiltration,
with rare foci of fibrosis, and normal residual myocytes.
Sudden death is not linked to an increased physical
activity (sudden death at rest). In the fibrofatty phenotype
the wall is thinner, often translucent, aneurisms are
present in nearly half the cases, usually located in the
apex cordis, infundibulum or the postero-inferior wall
(the triangle of the right ventricular dysplasia). Septal
involvement is rare but the left ventricle is affected in
almost half the cases. Histologically are identifiable fibrofatty infiltration, myocyte degeneration and apoptosis,
and T-cell lymphocyte inflammatory infiltrate [13-20].
Out patient had the fibrofatty type of ARVC, that is
known to be associated with an increased risk of sudden
death during strenuous activities. Moreover, the patient
had a hemodynamically significant myocardial bridging
on the left anterior descendant artery. The involvement
of the interventricular septum, with increased fibrosis
and lipomatosis, may be, at least partially caused by the
myocardial bridge [21], explaining why the patient had
increased fibro-lipomatosis in this area, known to be
rarely involved in ARVC.
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arrhythmogenic
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cardiomyopathy
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