Familial automaticity-conduction disorder with associated cardiomyopathy

Abstract

An unusually large family of European descent was afflicted over four generations by an automaticity and conduction disorder with an associated dilated cardiomyopathy of variable expression. Ten living members affected with the disorder and three presumed affected but dead members were identified. Typically, the disorder presented as a sinoatrial bradyarrhythmia/tachyarrhythmia syndrome, followed by atrial enlargement and, variably, ventricular enlargement and dysfunction. Three family members required pacemaker implantation. Longevity did not seem to be greatly affected, but the demonstrated potential for embolic cerebrovascular events stresses an associated morbidity. The familial incidence was best explained by autosomal dominant inheritance with incomplete penetrance (greater in males and usually occurring first in adolescence) and variable expressivity. The large size of the family, frequency and profile of disease manifestations and disease tracking through at least four generations are unusual features of the familial disease described.