Hereditary progressive atrioventricular conduction defect.
New data on genetics, including an extensive pedigree and certain aspects of natural history, have been compiled on Family S, which is characterized by a hereditary progressive atrioventricular (A-V) conduction defect. Concordance analysis of heart block in affected parents and their offspring suggests as a working hypothesis transmission of diathesis for the defect by means of a Mendelian autosomal dominant factor. Regression of the defect in several relatives, including reversion from first degree heart block to normal A-V conduction, defies explanation at this time. However, rapport established with the unusually large (1,067 members) and cooperative kindred will permit longitudinal evaluation of these findings.
D000293:Adolescent; D001283:Atrioventricular Node / Q000503:physiopathology*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006327:Heart Block / Q000235:genetics* / Q000503:physiopathology; D006329:Heart Conduction System / Q000503:physiopathology*; D006801:Humans; D008297:Male; D010375:Pedigree; D012306:Risk; D012737:Sex Factors