Further analysis of the structural and molecular pathology of the heart in Carvajal syndrome showed a distinct cardiomyopathy characterized by focal ventricular aneurysms and reduced expression of desmosomal proteins DSP and plakoglobin, and the gap junction protein connexin 43 (CX43) at intercalated disks. Here, GJA1 is linked to arrhythmogenic cardiomyopathy with wooly hair and keratoderma.