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Cornelia de Lange syndrome: Congenital heart disease in 149 patients
Ariadna Ayerza Casas1, Beatriz Puisac Uriol2, María Esperanza Teresa Rodrigo2
1Unidad de Cardiología Pediátrica, Servicio de Pediatría, Hospital Universitario Miguel Servet, Zaragoza, España; Unidad de Genética Clínica y Genómica Funcional, Departamentos de Farmacología-Fisiología y Servicio de Pediatría del Hospital Clínico Universitario "Lozano Blesa". Facultad de Medicina, Universidad de Zaragoza. Instituto de Investigación Sanitaria (IIS)-Aragón, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER)-GCV02, Zaragoza, España.
Insights
Congenital heart disease (CHD) affects over a third of Cornelia de Lange syndrome (CdLS) patients, with defect types varying by genetic mutation. Early cardiac evaluation is recommended for all CdLS individuals.
Area of Science:
- Genetics
- Cardiology
- Pediatrics
Background:
- Cornelia de Lange syndrome (CdLS) is a genetic disorder caused by cohesin complex gene mutations.
- Congenital heart disease (CHD) is a common but not primary diagnostic feature of CdLS.
- Understanding CHD incidence and types in CdLS is crucial for patient management.
Purpose of the Study:
- To determine the incidence and types of congenital heart disease (CHD) in patients with Cornelia de Lange syndrome (CdLS).
- To investigate the association between CHD and clinical/genetic variables in CdLS patients.
Main Methods:
- Retrospective analysis of cardiological findings in 149 CdLS patients.
- Correlation of CHD presence with clinical data and specific gene mutations (HDAC8, NIPBL, SMC1A).
Main Results:
- 34.9% of CdLS patients had CHD, primarily septal defects (50%), pulmonary stenosis (27%), and aortic coarctation (9.6%).
- CHD was linked to neonatal hospitalization, hearing loss, mortality, and reduced hyperactivity.
- Incidence varied by gene: HDAC8+ (60%), NIPBL+ (33%), SMC1A+ (28.5%), with distinct defect patterns.
Conclusions:
- CdLS patients exhibit a high prevalence of CHD, influenced by the specific gene mutation.
- Septal defects and pulmonary stenosis are the most common CHD types in this population.
- Routine cardiological assessment is advised for all individuals diagnosed with CdLS.
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.
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