Genetics of atrioventricular conduction disease in humans

The Anatomical Record. Part A, Discoveries in Molecular, Cellular, and Evolutionary Biology
D Woodrow Benson

Abstract

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 diver...Continue Reading

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Citations

Feb 8, 2006·Annual Review of Physiology·Krista L ClarkD Woodrow Benson
Sep 4, 2009·The Journal of Clinical Investigation·Martin KruseOlaf Pongs
Jul 30, 2009·The Tohoku Journal of Experimental Medicine·Akiko SagaHiroaki Shimokawa
Jul 4, 2006·The American Journal of Pathology·Yeong-Hoon ChoiDouglas B Cowan
Apr 13, 2015·Journal of Interventional Cardiac Electrophysiology : an International Journal of Arrhythmias and Pacing·Raffaella MilanesiMirko Baruscotti
Apr 25, 2014·Biomedical Optics Express·Yves T WangMichael W Jenkins
Jun 4, 2013·Journal of Cardiovascular Medicine·Francesco Fedele
Dec 27, 2016·Biomedical Optics Express·Pei MaAndrew M Rollins
Jan 21, 2016·Journal of Cardiovascular Development and Disease·Caroline ChoquetLucile Miquerol
Mar 25, 2005·Biological Research for Nursing·Theresa Terry Beery

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