Heart-hand syndrome, Slovenian type
Heart-hand syndrome, Slovenian type
Definition
A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.
Also known as atriodigital dysplasia, Slovenian type, Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome, heart-hand syndrome, Slovenian type — per MONDO