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

• Xie CH
• Yang JB
• Gong FQ
• Zhao ZY

• KMID: 724268
• DOI: http://doi.org/10.3349/ymj.2008.49.3.500

Abstract

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.

Keyword

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
Humans
Karyotyping
Male
Pulmonary Valve Stenosis/genetics/*pathology

Figure

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

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

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  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).

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