Secundum atrial septal defect associated with mitral valve cleft: report of a case with chromosomal syndrome of trisomy 3p.

Abstract

A 4-year-old boy was diagnosed as having a chromosomal abnormality with trisomy 3p associated with a secundum atrial septal defect and a cleft of the anterior mitral leaflet. His craniofacial features showed microcephaly, micrognathia, ocular hypertelorism associated with epicanthus, and low-set ears. Moderate mental retardation and hypoplasia of the penis were also noted. A left ventriculogram demonstrated grade 2 mitral regurgitation according to the Sellers' classification with a prolapsing of the mitral leaflets. A cleft of the anterior mitral leaflet was detected at the time of operation. The secundum atrial septal defect was directly closed and the mitral cleft was repaired. This is the first report of trisomy 3p associated with an atrial septal defect and a mitral valve cleft.