A 40-year-old patient with toothache and shoulder pain for 10 days died without former
known history of cardiac arrhythmias or myocardial infarction (MI) on sleep-related
sudden cardiac death (SCD). The autopsy did not reveal signs for traumatic violence
or intoxications nor for acute/chronic infections particularly of the upper aerodigestive
tract. Furthermore, no aspects of endo-/myocarditis including negative results for
cardiotropic virus were evident.
In contrast, the right ventricular (RV) myocardium showed a diffuse replacement by
fatty tissue (>70%) and dystrophy of cardiomyocytes (Panel A, arrows indicate endocardium),
corresponding to an arrhythmogenic RV dysplasia (ARVD) with immunohistochemical up-regulation
of the cytoskeleton protein desmin (Panel A, inset) and electronmicroscopic detection
of abnormal desmosomes (Panel B, arrowheads and inset). Moreover, the proximal right
coronary arteria showed an isolated high-grade stenosis (∼80%) with acute subtotal
thrombotic obliteration (Panel C, inset histological image) resulting in acute MIs
of subendocardial RV myocardium (Panel D, hypereosinophilic cardiomyocytes without
nuclei). Since any signs of backward failure of the left ventricle such as lung oedema
were lacking, we diagnosed an SCD due to acute RV failure in a patient with ARVD and
ARVD is behind hypertrophic concentric cardiomyopathy the major non-ischaemic cause
for SCD in association with sports activity in young patients (age <40 years). Here,
we describe, to our knowledge, the first case of an ARVD in combination with coronary
heart disease/MIs, which might have triggered acute ventricular arrhythmias/failure
independently from physical exertion and should be therefore considered for in vivo/autopsy
investigations in family members of ARVD patients.
Funding to pay the Open Access publication charges for this article was provided by
the Wilhelm-Sander-Stiftung and the foundation Fight against Cancer.