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Синдром серце-рука, словенський тип

ORPHA:168796· ICD-10 Q87.2· Heart-hand syndrome, Slovenian type

Визначення(English summary)

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.

Поширеність
<1 / 1 000 000
Успадкування
Autosomal dominant
Вік початку
Adult