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Familiar progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy and branchydactyly ; A new type of heart-hand syndrome? = Družinska napredujoča sinoatrialna in atrioventrikularna prevodna bolezen odrasle dobe z nenadno srčno smrtjo, dilatativno kardiomiopatijo in brahidaktilijo ; Nov tip sindroma srce-roka?
Volk, Marija, dr. med. ...
We identified a family with 10 affected members in 4 generations suffering from adult onset progressive sinoatrial and atrioventricular conduction disease, sudden death due to ventricular ...tachyarrhythmia, dilated cardiomyopathy, and a unique type of brachydactyly with mild hand involvement (short distal, middle, proximal phalanges and clinodactyly) and more severe foot involvement (short distal, proximal phalanges and metatarsal bones, shortor absent middle phalanges, terminal symphalangism, duplication of the bases of the second metatarsals, extra ossicles and syndactyly). The phenotypediffers from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, brachydactylytype B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci, suggest that we are reporting a new hereditary heart-hand syndrome.
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