Síndrome de Cornelia de Lange: incidencia de cardiopatía congénita en 149 pacientes
2017; Elsevier BV; Volume: 149; Issue: 7 Linguagem: Inglês
10.1016/j.medcli.2017.03.051
ISSN1578-8989
AutoresA. Ayerza Casas, Beatriz Puisac, M.E. Rodrigo, María Hernández Marcos, Feliciano Jesús Ramos Fuentes, Juan Pié,
Tópico(s)Cancer-related gene regulation
ResumoCornelia 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.Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables.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+.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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