Yonsei Med J.  2008 Jun;49(3):500-502. 10.3349/ymj.2008.49.3.500.

Patent Ductus Arteriosus and Pulmonary Valve Stenosis in A Patient with 18p Deletion Syndrome

  • 1The Children's Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang, China. wxh_hz@sohu.com


We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.


18p deletion syndrome; dysmorphic features; patent ductus arteriosus; pulmonary valve stenosis

MeSH Terms

Child, Preschool
Chromosome Banding
*Chromosome Deletion
Chromosomes, Human, Pair 18/*genetics
Ductus Arteriosus, Patent/genetics/*pathology
Pulmonary Valve Stenosis/genetics/*pathology


  • Fig. 1 An aortography in the lateral projection showed the shape and size of the PDA. PDA, patent ductus arteriosus.

  • Fig. 2 Repeated aortography showed the location of the device and no shunt from the aorta to the pulmonary artery.

  • Fig. 3 A standard diagram of a chromosome 18 (Left) and partial karyotype of chromosomes 18 (Right), the arrow points to the monosomy 18, the del (18) (p11.3).


1. Kim YM, Cho EH, Kim JM, Lee MH, Park SY, Ryu HM. Del (18p) syndrome with increased nuchal translucency in prenatal diagnosis. Prenat Diagn. 2004. 24:161–164.
2. Schaub RL, Reveles XT, Baillargeon J, Leach RJ, Cody JD. Molecular characterization of 18p deletions: evidence for a breakpoint cluster. Genet Med. 2002. 4:15–19.
3. Vasquez JC, Rabah R, Delius RE, Walters HL. Hypoplastic left heart syndrome with intact atrial septum associated with deletion of the short arm of chromosome 18. Cardiovasc Pathol. 2003. 12:102–104.
4. Digilio MC, Marino B, Giannotti A, Di Donato R, Dallapiccola B. Heterotaxy with left atrial isomerism in a patient with deletion 18p. Am J Med Genet. 2000. 94:198–200.
5. Gong YX, Dai XY. Handbook of Wechsler Preschool and Primary Scale of Intelligence in China. 1992. Changsha: Hunan map publishing company.
6. Strenge S, Froster UG. Diaphragmatic hernia in 18p-syndrome. Am J Med Genet A. 2004. 125A:97–99.
7. Brenk CH, Prott EC, Trost D, Hoischen A, Walldorf C, Radlwimmer B, et al. Towards mapping phenotypical traits in 18p-syndrome by array-based comparative genomic hybridisation and fluorescent in situ hybridisation. Eur J Hum Genet. 2007. 15:35–44.
8. Movahhedian HR, Kane HA, Borgaonkar D, McDermott M, Septimus S. Heart disease associated with deletion of the short arm of chromosome 18. Del Med J. 1991. 63:285–289.
9. Slavotinek A, Clayton-Smith J, Super M. Familial patent ductus arteriosus: a further case of CHAR syndrome. Am J Med Genet. 1997. 71:229–232.
10. Mani A, Radhakrishnan J, Farhi A, Carew KS, Warnes CA, Nelson-Williams C, et al. Syndromic patent ductus arteriosus: evidence for haploinsufficient TFAP2B mutations and identification of a linked sleep disorder. Proc Natl Acad Sci U S A. 2005. 102:2975–2979.
11. Babovic-Vuksanovic D, Jenkins SC, Ensenauer R, Newman DC, Jalal SM. Subtelomeric deletion of 18p in an adult with paranoid schizophrenia and mental retardation. Am J Med Genet A. 2004. 124A:318–322.
12. Wester U, Bondeson ML, Edeby C, Annerén G. Clinical and molecular characterization of individuals with 18p deletion: a genotype-phenotype correlation. Am J Med Genet A. 2006. 140:1164–1171.
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