Cornelia de Lange syndrome: Congenital heart disease in 149 patients

Abstract Introduction Cornelia de Lange syndrome(CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesincomplex. Congenital heart disease (CHD) is not a major criterionof 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 Cardiologicalfindings 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 hospitalization ( p = 0.04), hearing loss ( p = 0.002), mortality ( p = 0.09) and lower hyperactivity ( p = 0.02), 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 cardiologicstudy in all these patients is suggested.