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.
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References
Yunis JJ (1978) Trisomy for the distal end of the short arm of chromosome 3. A syndrome. Am J Dis Child 132:30–33
Parlior C, Fryns JP, Van den Berghe H (1979) Partial trisomy of the short arm of chromosome 3 (3p25→3pter). Hum Genet 47:234–244
Rethore MO, Lejeune J, Carpentier S, Prieur M, Dutrillaux B, Seringe PH, Rossier A, Job JC (1972) Trisomie pour la partie distale du bras court de chromosome 3 chez trois germains. Premier exemple d'insertion chromosomique: Ins (7;3)(q31;p21 p26). Ann Genet 15:159–165
Tsukino R, Kodama A, Miyashiro E, Kawamura H, Koike M (1980) A case of partial 3p-trisomy through tree generations (46,XY,-18,der(18),t(3;18)(p24;q22)mat)(in Japanese). Nihon Jinrui Iden Gakkai Zasshi 25:165
Sengni ED, Edwards JE (1983) Cleft anterior leaflet of the mitral valve with intact septa. Am J Cardiol 51:919–926
Aoyagi N, Kosuga K, Tanaka K, Nishi Y, Inutuka H, Ando F, Oishi K (1989) Secundum-type atrial defect with cleft mitral valve (in Japanese with English abstract). Nihon Shinzo Kekkan Geka Gakkai Zasshi (J Jpn Cardiovasc Surg) 19:28–31
Titus JL (1969) Congenital malformation of the mitral and aortic valves and related structures. Dis Chest 55:358–367
Brinsfield DE, Plauth Jr WH (1978) Clinical recognition and medical management of congenital heart disease. In: Hurst JW, Logue RB, Schlant RC, Wenger NK (eds) The heart, arteries and veins, 4th edn. McGraw-Hill, New York, pp 169–177
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Suzuki, M., Ishikawa, S., Ohtaki, A. et al. Secundum atrial septal defect associated with mitral valve cleft: Report of a case with chromosomal syndrome of trisomy 3p. Surg Today 26, 734–736 (1996). https://doi.org/10.1007/BF00312096
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DOI: https://doi.org/10.1007/BF00312096