Author/Editor		Volk, Marija; Šinkovec, Matjaž; Petrovič, Daniel; Peterlin, Borut
Title		Familiar progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy and branchydactyly. A new type of heart-hand syndrome?
Translated title		Družinska napredujoča sinoatrialna in atrioventrikularna prevodna bolezen odrasle dobe z nenadno srčno smrtjo, dilatativno kardiomiopatijo in brahidaktilijo. Nov tip sindroma srce-roka?
Type		članek
Source		In: Luzar B, Poljak M, Glavač D, et al, editors. Molekularna diagnostika v medicini. Zbornik 15. spominsko srečanje akademika Janeza Milčinskega, 36. memorialni sestanek profesorja Janeza Plečnika, 1. srečanje Slovenskega društva za humano genetiko z mednarodno udeležbo; 2005 30 nov - 2 dec; Ljubljana. Ljubljana: Medicinska fakulteta,
Publication year		2005
Volume		str. 295-301
Language		eng
Abstract		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, short or absent middle phalanges, terminal symphalangism, duplication of the bases of the second metatarsals, extra ossicles and syndactyly). The phenotype differs 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.
Descriptors		TACHYCARDIA, VENTRICULAR CARDIOMYOPATHY, CONGESTIVE DEATH, SUDDEN, CARDIAC PEDIGREE PHENOTYPE ADULT BUNDLE-BRANCH BLOCK