Ariadna Ayerza Casas1, Beatriz Puisac Uriol2, María Esperanza Teresa Rodrigo2, María Hernández Marcos2, Feliciano J Ramos Fuentes2, Juan Pie Juste3. 1. Unidad 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. 2. 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. 3. 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. Electronic address: juanpie@unizar.es.
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 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.
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.