ARVC and plakoglobin
Based on the recent findings where immunohistochemistry confirmed the diagnosis of ARVC by a reduced signal of plakoglobin 1, we aim to compare tissue from individuals dying suddenly with ARVC and those with fatty infiltration in RV/LV in otherwise normal hearts.
The question is to determine if there is any similarity between these two entities. Fatty infiltration is considered to be a normal finding in the aging population however could it have a different significance in the young? In fact could it reflect an early form of ARVC?
We will use a tissue microarray technique in order to compare multiple cases in one instance. The tissue microarray technique is well established in the laboratory of Dr Dan Berney at the Barts and the London. SN has been shown how to perform the technique in their laboratory where a collaboration can be initiated to answer this question. A grant must be created to fund this work including the purchase of the necessary reagents/antibodies and obtain the facilties for implementing immunohistochemistry.
(1) Asimaki A, Tandri H, Huang H et al. A new diagnostic test for arrhythmogenic right ventricular cardiomyopathy. N Engl J Med 2009 March 12;360(11):1075-84.
ARVC and inflammation
There is also a link between inflammation and ARVC. We have identified 12 cases of sudden cardiac death with ARVC that had lymphocytic infiltrates. It is not yet known whether presence of these infiltrates have a role in the disease or whether they are a bystander phenomenon. We aim to characterize the type and distribution of the inflammation in our cases including using markers for T/B/MF and cytosolic IFN-g/TNF-a.