Congenital polyvalvular cardiac disease without chromosomal abnormalities

Congenital polyvalvular cardiac disease has been reported in association with trisomies 18, 13, and 15. Ninety-three percent of trisomy 18 patients have polyvalvular disease, and 34% have all four valves involved. Four cases of polyvalvular disease without chromosomal abnormalities were studied and compared to polyvalvular disease with trisomy. In these four cases, all four valves were markedly abnormal with nodularity and reductant tissue; one aortic and two pulmonary valves were bicuspid; and one aortic, two tricuspid, and three mitral valves were unicuspid. The chordae tendineae were generally abbreviated and papillary muscles were hypoplastic. Microscopically, the valves had spongiosis, vacuolar degeneration, and a decrease in elastic fibers. Multiple other cardiac anomalies were present in each case. Three of the four cases also had significant extracardiac anomalies, which were lethal in two cases. The fourth case with no other anomalies had a history of maternal tobacco, alcohol, and cocaine abuse, with the latter being detected in fetal urine after birth. There does not appear to be a significant difference between polyvalvular disease with and without trisomy. Polyvalvular disease is usually not an isolated disorder but is associated with other intra- and extracardiac anomalies.