Heart-hand syndrome, Slovenian type

Orpha code: 168796OMIM code: 610140

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Atriodigital dysplasia, Slovenian type
Choroba przewodzenia w sercu - kardiomiopatia rozstrzeniowa - brachydaktylia
Dysplazja przedsionkowo-palcowa, typ słoweński
Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
ORPHA code
168796
OMIM code
610140
ICD10 code
Q87.2
ICD11 code
LD2F.1Y

No additional description.

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