Polyvalvular disease in a fetus with normal chromosomes.
Congenital polyvalvular disease is a spectrum of macroscopic and microscopic anomalies of the 4 valves of the heart. It is most commonly associated with chromosomal abnormalities, such as trisomy 13 and trisomy 18. Kowal-Vern et al. and Bartram et al. describe a total of 4 cases of congenital polyvalvular disease in patients with normal chromosomes by standard banding pattern analysis. Each of their patients, however, had associated extracardiac anomalies. Of the 8 previously reported cases of congenital polyvalvular disease with no extracardiac anomalies, chromosome analysis was not performed. We report a prenatally diagnosed case of polyvalvular disease with normal chromosomes and no extracardiac anomalies.
Miller
Michelle
M
Cedars-Sinai Medical Center-Pediatric Cardiology, Los Angeles, California 90048, USA. michelle.miller@cshs.org
Krakow
Deborah
D
Pepkowitz
Samuel
S
D001021:Aortic Valve; D002815:Chordae Tendineae; D002875:Chromosomes; D004452:Echocardiography; D017809:Fatal Outcome; D005260:Female; D006349:Heart Valve Diseases / Q000151:congenital / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007621:Karyotyping; D008943:Mitral Valve; D011664:Pulmonary Valve; D014261:Tricuspid Valve; D016216:Ultrasonography, Prenatal