Ebstein's anomaly and extracardiac defects
J. R. Siebert, M. Barr Jr, J. C. Jackson and D. R. Benjamin
Department of Pathology, Children's Hospital and Medical Center, Seattle, WA 98105.
Ebstein's anomaly of the tricuspid valve occurs as an isolated defect with
other forms of congenital heart disease such as transposition of the great
arteries or tetralogy of Fallot or, rarely, in association with
extracardiac malformations. Because so little is known about this latter
group, we studied four cases clinically, at autopsy, and by means of a
retrospective chart review. Major extracardiac changes most often involved
the craniofacial region, central nervous system, and limbs. Karyotypes were
normal, and no distinctive syndromes or anatomic patterns were identified.
Since the timing of Ebstein's anomaly is quite precise, ascertainment of
such cases on the basis of cardiac morphology may enhance the understanding
of etiology and pathogenesis. Both causes and mechanisms may well be
diverse, for the clinical histories and anatomic findings in present and
previously reported cases vary considerably. Isolated Ebstein's anomaly may
develop from topographically and temporally localized damage. Ebstein's
anomaly with extracardiac defects may involve damage during a longer, and
perhaps earlier, period.