Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), 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.
Synonyms: Atriodigital dysplasia, Slovenian type Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome
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Term information
database cross reference
- ICD-10:Q87.2 (Attributed (The ICD10 code is attributed by Orphanet))
- UMLS:C1857829 (E (Exact mapping: the two concepts are equivalent))
- MeSH:C535852 (E (Exact mapping: the two concepts are equivalent))
- OMIM:610140 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:Q87.2 (NTBT (ORPHA code's Narrower Term maps to a Broader Term))
Term relations
Subclass of:
- malformation syndrome
- present_in some Worldwide and has_point_prevalence_range some <1 / 1 000 000
- part_of some Genetic cardiac rhythm disease
- present_in some Worldwide and has_cases/families_value value 14.0
- part_of some Syndrome associated with dilated cardiomyopathy
- has_inheritance some autosomal dominant
- part_of some Laminopathy with striated muscle involvement
- has_age_of_onset some adult
- part_of some Heart-hand syndrome
Related from: