Cornelia de Lange syndrome: Congenital heart disease in 149 patients

Med Clin (Barc). 2017 Oct 11;149(7):300-302. doi: 10.1016/j.medcli.2017.03.051. Epub 2017 Jun 16.
[Article in English, Spanish]


Introduction: Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS.

Material and method: Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables.

Results: A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+.

Conclusions: Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested.

Keywords: Cardiopatía congénita; Comunicación interauricular; Congenital heart defects; Congenital heart disease; Cornelia de Lange syndrome; Defectos cardiacos congénitos; Estenosis pulmonar; Pulmonary stenosis, Atrial septal defect; Síndrome de Cornelia de Lange.

MeSH terms

  • De Lange Syndrome / diagnosis*
  • De Lange Syndrome / genetics
  • Female
  • Genetic Markers
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / epidemiology
  • Heart Defects, Congenital / genetics
  • Humans
  • Incidence
  • Male


  • Genetic Markers