Heart-hand syndrome, Slovenian type

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Description

A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of 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.

SNOMEDCT_US

  • Mode of Inheritance

  • Autosomal dominant inheritance

Genes

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