Preferred Label : Heart-hand syndrome, Slovenian type;
ICD-11 definition : Heart-hand syndrome, Slovenian type is 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.;
Origin ID : 1814304618;
Currated CISMeF NLP mapping
Heart-hand syndrome, Slovenian type is 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.
