A recessive mutation of desmoplakin has been proven to explain another cardiocutaneous syndrome, i.e. Carvajal disease [70], characterized by keratoderma, woolly hair and a biventricular form of ARVC/D [71], with distinct ultrastructural abnormalities of intercalated discs and decreased immunoreactive signals for desmoplakin, plakoglobin and Cx 43. This evidence concerns the gene DSP and Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type.