New mutations in the integrin-linked kinase gene (ILK) in patients with arrhythmogenic cardiomyopathy

Abstract

Two cases of arrhythmogenic right ventricular cardiomyopathy (ARVC) with the left ventricle involvement and skin manifestations in unrelated patients are presented in the article. In both cases, new variants in the conserved positions of the integrin-linked kinase gene (ILK), p.T181A and p.I188T, were found using the NGS method. Changes of ILK functioning disrupt cell contact with the matrix and signalling, causing cardiomyopathies development in the heart; blistering and hyperplasia of the epidermis. With a high probability, the substitutions p.T181A and p.I188T result in the ARVC and nonspecific skin manifestations in the patients described in the article. However additional investigations are required.