De subitaneis mortibus. X. Familial congenital heart block

Abstract

Complete heart block was found shortly after birth in a brother and sister (not twins). Both were treated by electronic pacing because of symptoms attributable to inadequate cardiac output and electrical instability of the heart. The boy did well with his artificial pacemaker and at the time of writing was 6 yr old. His sister died of complications due in part to the large size of her pacemaker and small size of her body. At necropsy special studies of her heart included the centers for normal impulse formation and conduction. The primary abnormalities were at the junction of atrial septum with atrioventricular (A V) node, and at the origin of the two bundle branches from the His bundle. The A V node was isolated by collagen at all its margins except its junction with the His bundle. The proximal His bundle was essentially normal, but from that point on through the initial portions of both the left and right bundle branches there was extensive caseous degeneration which interrupted any possible conduction. These findings are discussed in relation to fetal and postnatal development of the human A V node, and the His bundle and its branches; and in the context of a recently observed mathematical relationship between sinus rate and two forms of experimentally produced A V junctional escape rhythms.