Cri du chat syndrome and congenital heart disease: A review of previously reported cases and presentation of an additional 21 cases from the pediatric cardiac care consortium

Christine Hills, James H Moller, Marsha Finkelstein, Jamie L Lohr, Lisa A Schimmenti

Research output: Contribution to journalReview articlepeer-review

37 Scopus citations

Abstract

OBJECTIVES. To analyze the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) database from 1982 to 2002 to determine the frequency and distribution of congenital heart disease (CHD) found in this population, to review the literature for previously published accounts of CHD in this population, and to review current genotype-phenotype associations for cri du chat (CDC) syndrome with CHD. METHODS. We performed a retrospective review of the 98 422 CHD cases submitted to the PCCC between 1982 and 2002, to find patients who had a noncardiac diagnosis of CDC syndrome. RESULTS. A total of 21 patients (15 female and 6 male patients) were identified. Although some patients had multiple cardiac anomalies, they were categorized according to primary diagnoses on the basis of the most hemodynamically significant component. The patient groups were ventricular septal defect (n = 6), patent ductus arteriosus (n = 6), tetralogy of Fallot (n = 5), pulmonary valve atresia with ventricular septal defect (n = 2), pulmonary valve stenosis (n = 1), and doubleoutlet right ventricle (n = 1). Eighteen of the 21 patients underwent surgical repair of their defects. There was 1 late operative death. To determine whether the observed frequency of these cardiac defects among patients with CDC syndrome was comparable to that of the general population of patients with CHD, data for all cases submitted to the PCCC from 1982 to 2002 were used. Use of these numbers to determine expected frequencies for these defects showed significantly greater proportions of patients with these specific lesions among the patients with CDC syndrome. CONCLUSIONS. Currently there is no clear understanding of the genomic cause of the prevalence of these defects in the population with CDC syndrome, although CHD has been noted among patients with other deletion syndromes.

Original languageEnglish (US)
Pages (from-to)e924-e927
JournalPediatrics
Volume117
Issue number5
DOIs
StatePublished - May 1 2006

Keywords

  • Congenital heart disease
  • Genetics
  • Genotype-phenotype correlation

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