heart-hand syndrome, Slovenian type
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.
MONDO:0016337
obsolete syndrome associated with dilated cardiomyopathy (obsolete MONDO:0016337)
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0016432
heart-hand syndrome
is_a
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
exact
atriodigital dysplasia, Slovenian type
exact
heart-hand syndrome, Slovenian type
exact