CONGENITAL POLYVALVULAR CARDIAC DISEASE WITHOUT CHROMOSOMAL-ABNORMALITIES

Congenital polyvalvular cardiac disease has been reported in associati on with trisomies 18, 13 and 15. Ninety-three percent of trisomy 18 pa tients have polyvalvular disease, and 34% have all four valves involve d. Four cases of polyvalvular disease without chromosomal abnormalitie s were studied and compared to polyvalvular disease with trisomy. In t hese cases, all four valves were markedly abnormal with nodularity and redundant 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 muscle s were hypoplastic. Microscopically, the valves had spongiosis, vacuol ar degeneration, and a decrease in elastic fibers. Multiple other card iac 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 to bacco, alcohol, and cocaine abuse with the latter being detected in fe tal urine after with. There does not appear to be a significant differ ence between polyvalvular disease with and without trisomy. Polyvalvul ar disease is usually not an isolated disorder but is associated with other intra- and extracardiac anomalies.