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%).
Cornelia de Lange syndrome: Congenital heart disease in 149 patients

## Keywords

Congenital heart defects

Congenital heart disease

Cornelia de Lange syndrome

Pulmonary stenosis

Atrial septal defect


Abstract
 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 hospitalization ( _p_ = 0.04), <dis>hearing loss</dis> ( _p_ = 0.002), mortality ( _p_ = 0.09) and lower <dis>hyperactivity</dis> ( _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 cardiologic study in all these patients is suggested.
Abstract
 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 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 cardiologic study in all these patients is suggested.
The presence of CHD was related with neonatal hospitalization ( _p_ = 0.04), <dis>hearing loss</dis> ( _p_ = 0.002), mortality ( _p_ = 0.09) and lower <dis>hyperactivity</dis> ( _p_ = 0.02), it being more frequent in _HDAC8_ \+ patients (60%), followed by _NIPBL_ \+ (33%) and _SMC1A_ \+ (28.5%).
hearing loss
DISABILITY
hyperactivity
DISABILITY