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Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome?
Clin Genet. 2005 Aug; 68(2):155-60.CG

Abstract

We identified a family with 10 affected members in four 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 differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, brachydactyly type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart-hand syndrome.

Authors+Show Affiliations

Department of Cardiology, University Medical Center Ljubljana, Slovenia. matjaz.sinkovec@kclj.siNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

15996213

Citation

Sinkovec, M, et al. "Familial Progressive Sinoatrial and Atrioventricular Conduction Disease of Adult Onset With Sudden Death, Dilated Cardiomyopathy, and Brachydactyly. a New Type of Heart-hand Syndrome?" Clinical Genetics, vol. 68, no. 2, 2005, pp. 155-60.
Sinkovec M, Petrovic D, Volk M, et al. Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? Clin Genet. 2005;68(2):155-60.
Sinkovec, M., Petrovic, D., Volk, M., & Peterlin, B. (2005). Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? Clinical Genetics, 68(2), 155-60.
Sinkovec M, et al. Familial Progressive Sinoatrial and Atrioventricular Conduction Disease of Adult Onset With Sudden Death, Dilated Cardiomyopathy, and Brachydactyly. a New Type of Heart-hand Syndrome. Clin Genet. 2005;68(2):155-60. PubMed PMID: 15996213.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial progressive sinoatrial and atrioventricular conduction disease of adult onset with sudden death, dilated cardiomyopathy, and brachydactyly. A new type of heart-hand syndrome? AU - Sinkovec,M, AU - Petrovic,D, AU - Volk,M, AU - Peterlin,B, PY - 2005/7/6/pubmed PY - 2005/9/15/medline PY - 2005/7/6/entrez SP - 155 EP - 60 JF - Clinical genetics JO - Clin Genet VL - 68 IS - 2 N2 - We identified a family with 10 affected members in four 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 differences from other reported genetic abnormalities and linkage exclusion of Holt-Oram syndrome, ulnar-mammary syndrome, brachydactyly type B or Robinow syndrome, and cardiac conduction disease or Brugada syndrome loci suggest that we report on a new hereditary heart-hand syndrome. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/15996213/Familial_progressive_sinoatrial_and_atrioventricular_conduction_disease_of_adult_onset_with_sudden_death_dilated_cardiomyopathy_and_brachydactyly__A_new_type_of_heart_hand_syndrome L2 - https://doi.org/10.1111/j.1399-0004.2005.00476.x DB - PRIME DP - Unbound Medicine ER -