Familial Congenital Complete Heart Block

Abstract

In general, the occurrence of congenital heart disease may be considered to be due to genetic factors, environmental factors, or a combination of the two. When an identical defect is found in more than one member of the same family, a genetic etiology is suggested. The medical literature reveals numerous reports of a wide variety of congenital heart lesions occurring in families. Taussig,1 for example, reported on a family in which patent ductus arteriosus appeared in 3 successive generations. This experience provides strong exidence that at least certain types of congenital heart lesions may have a genetic basis.Complete congenital heart block is an uncommon lesion, having been reported only slightly over 100 times in the world literature. The etiology of this condition remains unsettled. Autopsy reports2-9 which include detailed histologic study of the conduction system have revealed that most often the atrioventricular node was separated from the rest of the conduction system by the central fibrous body. In others the bundle of His was rudimentary or could not be identified. These observations have not been consistent enough to make clear the pathol¬ ogy of this condition. The occurrence of this defect in members of the same family has been reported,e'10"13 giving evidence in favor of a genetic etiology.

Ellis–van Creveld Syndrome: A Report of Two Cases

“…Uncommonly there may also be polydactyly of the feet (6). Possibly congenital heart block may be associated with polydactyly (7).…”

Congenital Complete Heart Block in Siblings

“…Developmental anomalies of the limbs have been reported in associa tion with congenital complete heart block [23]. It should be noted that the second case reported here has such an anomaly of the left upper limb.…”

“…The first unequivocal diagnosis of congenital heart block was made by W hite and E ustis in 1928 [34] in a baby whose slow heart rate was detected before birth and was confirmed by electrocardiography soon after birth. Familial occurrence of congenital CHB with electrocardio graphic confirmation was reported by A itken [1], W endkos and Study [33], Canabal and D ighiero [6], Stephan [30], W right et al [35], Connor et al [8], W allgren and A gorio [32], and Lynch and E ngle [23]. Combrink et al [7] reported varying degrees of right bundle branch block in all four siblings of a family.…”