Arrhythmogenic right ventricular cardiomyopathy: Dysplasia, dystrophy or myocarditis?

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a not so rare “disease of the desmosome” with multiple clinical presentations

“…The thickness of the right myocardial free wall can be reduced. At a later stage, the left ventricle may also be involved in this process: In a study of 30 hearts at autopsy, left ventricular involvement was found in 47% 14 .…”

“…Myocardial dysplasia, leading to adipogenesis and fibrogenesis. An example of maldeveloped right ventricular myocardium is Uhl's anomaly, in which the right ventricular myocardium is absent at birth already and replaced by fibrous tissue 14 .…”

Myocardial expression profiles of candidate molecules in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia compared to those with dilated cardiomyopathy and healthy controls

“…8 Early histology and electron microscopy studies revealed that the fibrofatty replacement of the right ventricular myocardium is accompanied by inflammation and apoptosis. 9 Desmosomal mutations may lead to altered cellular distribution of desmosomes, as well as increased apoptosis. 10 It has been demonstrated that the tumor protein 53 apoptosis effector (PERP) does not only play a role in the initiation of apoptosis, but is also involved in desmosomal structures.…”

Arrhythmogenic Cardiomyopathy

“…AC is a "structural" cardiomyopathy characterized by dystrophy of the ventricular myocardium with replacement by fibro-fatty tissue [1,2] (Fig. 1).…”

“…Arrhythmogenic cardiomyopathy (AC) (OMIM #107970; ORPHA247) is a rare disease of the heart muscle characterized by a progressive myocardial dystrophy with fibro-fatty replacement [1][2][3][4]. It is a genetically determined cardiomyopathy caused by heterozygous or compound heterozygous mutations in genes mostly encoding proteins of the desmosomal complex (about 50 % of probands).…”