Genetics of atrioventricular conduction disease in humans. Anat Rec A Discov Mol Cell Evol Biol 2004 Oct;280(2):934-9
Date
09/17/2004Pubmed ID
15372490DOI
10.1002/ar.a.20099Scopus ID
2-s2.0-4844228952 (requires institutional sign-in at Scopus site) 36 CitationsAbstract
Atrioventricular (AV) conduction disease (block) describes impairment of the electrical continuity between the atria and ventricles. Classification of AV block has utilized biophysical characteristics, usually the extent (first, second, or third degree) and site of block (above or below His bundle recording site). The genetic significance of this classification is unknown. In young patients, AV block may result from injury or be the major cardiac manifestation of neuromuscular disease. However, in some cases, AV block has unknown or idiopathic cause. In such cases, familial clustering has been noted and published pedigrees show autosomal dominant inheritance; associated heart disease is common (e.g., congenital heart malformation, cardiomyopathy). The latter finding is not surprising given the common origin of working myocytes and specialized conduction system elements. Using genetic models incorporating reduced penetrance (disease absence in some individuals with disease gene), variable expressivity (individuals with disease gene have different phenotypes), and genetic heterogeneity (similar phenotypes, different genetic cause), molecular genetic causes of AV block are being identified. Mutations identified in genes with diverse functions (transcription, excitability, and energy homeostasis) for the first time provide the means to assess risk and offer insight into the molecular basis of this important clinical condition previously defined only by biophysical characteristics.
Author List
Benson DWMESH terms used to index this publication - Major topics in bold
AnimalsAtrioventricular Node
Heart Block
Heart Conduction System
Heart Defects, Congenital
Homeodomain Proteins
Humans
Neuromuscular Diseases
Sodium Channels
