Analysis of congenital heart defects in 87 consecutive patients with Brachmann-de Lange syndrome

Angelo Selicorni, Anna Maria Colli, Alice Passarini, Donatella Milani, Anna Cereda, Marta Cerutti, Silvia Maitz, Viviana Alloni, Laura Salvini, Maria Albina Galli, Silvia Ghiglia, Patrizia Salice, Gian Battista Danzi

Research output: Contribution to journalArticlepeer-review


Congenital heart defects (CHDs) have been estimated to occur in ∼20% of patients with Brachmann-de Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients with longitudinal follow-up from 5 to 12 years. A cardiac anomaly was identified in 29/87 (33.3%) including 28 (32.2%) patients with a structural CHD, and an additional patient (1.2%) with isolated non-obstructive hypertrophic cardiomyopathy (HCM). Of the 28 patients with a CHD, 12 (42.9%) had an isolated obstructive CHD, 10 of which were pulmonary stenosis (36%), 8 (28.6%) had an isolated left to right shunt, and the remainder showed a combination of structural anomalies. Overall incidence of pulmonary stenosis was 39% (11/28). Isolated late-onset mitral or tricuspid valve dysplasia, albeit hemodynamically insignificant, was detected at follow-up examination in 4 (14.3%) patients older than 10 years, previously known to be normal. In contrast to previous studies, only two patients required surgery, one for closure of a large perimembranous ventricular septal defect (VSD) and associated ASD closure (1), and another for VSD closure and relief of pulmonary valve stenosis (1). The remainder are receiving medical follow-up.Webelieve that the overall frequency (33.3%) and evidence of 4 late onset dysplastic valves anomalies justifies both echocardiographic assessment in all BDLS patients at the first diagnostic assessment, and later on during medical follow-up.

Original languageEnglish
Pages (from-to)1268-1272
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Issue number6
Publication statusPublished - Jun 2009


  • Brachmann-de Lange syndrome
  • Congenital heart defects
  • Cornelia de Lange syndrome
  • Hypertrophic cardiomyopathy
  • Pulmonary stenosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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