Heart-hand syndrome, Slovenian type

Disease Export to PDF
Name:
Heart-hand syndrome, Slovenian type
Description:
A rare autosomal dominant form of heart-hand syndrome 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.
ORPHAcode:
168796
Synonyms:
Atriodigital dysplasia, Slovenian type
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
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Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14