title: Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature.
abstract: Individuals with the 18q deletion syndrome are presented with various clinical characteristics, including cardiac anomalies in 24-36% of the reported cases. Nonetheless, genotype-phenotype correlations for cardiac anomalies in the 18q deletion syndrome have rarely been reported. We report on two girls with a terminal 18q deletion, one in whom an Ebstein anomaly and Wolff-Parkinson-White syndrome were detected and the other with multiple valve stenosis and a ventricular septal defect. The genotype and cardiac abnormalities of these girls and 17 other individuals with a de novo 18qter deletion reported in the literature are reviewed. All 19 individuals shared a small overlapping deletion region between 18q22.3q23. The most common cardiac defects detected were pulmonary valve anomalies and atrial septal defects. Ebstein anomaly, a rare cardiac malformation, was diagnosed in two individuals. Additional molecularly based genotype-phenotype studies are needed in order to pinpoint candidate genes within this region that contribute to normal cardiac development. A careful cardiac evaluation consisting of physical examination, ECG and ultrasound examination should be performed in all individuals diagnosed with the 18q deletion syndrome.
authors.affiliation: Department of Paediatrics, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors.forename: Dorothée C
authors.initials: DC
authors.lastname: van Trier
authors.forename: Ilse
authors.initials: I
authors.lastname: Feenstra
authors.forename: Petra
authors.initials: P
authors.lastname: Bot
authors.forename: Nicole
authors.initials: N
authors.lastname: de Leeuw
authors.forename: Jos M Th
authors.initials: JM
authors.lastname: Draaisma
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D025063:Chromosome Disorders / Q000175:diagnosis*; D002887:Chromosomes, Human, Pair 18; D055028:Comparative Genomic Hybridization; D004437:Ebstein Anomaly / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D007231:Infant, Newborn
keywords: 18q Deletion syndrome; Congenital heart defects; Ebstein anomaly; Genotype–phenotype correlation; Karyotyping; Microarray