Heart-hand syndrome, Slovenian type (Q105611): Difference between revisions
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Síndrome coração-mão tipo esloveno é uma forma rara autossômica dominante da síndrome coração-mão, descrita pela primeira vez em membros de uma família eslovena, que é caracterizada por início na idade adulta, doença de condução cardíaca progressiva, taquiarritmias que podem levar à morte súbita, cardiomiopatia dilatada e braquidactilia, com as mãos menos gravemente afetadas do que os pés. Fraqueza muscular e/ou achados miopáticos na eletromiografia foram observados em alguns casos. | |||
| description / en | description / en | ||
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 characterised 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. | |||
Revision as of 11:57, 17 August 2026
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 characterised 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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1814304618 |
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| English | Heart-hand syndrome, Slovenian type |
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 characterised 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. |
