Malformations cardiaques congénitales

Congenital heart defects in NIPBL are frequent with Polish CdLS patients

Introduction

Mutations in NIPBL are detected in approximately 47-60% of Cornelia de Lange Syndrome (CdLS1, OMIM 122470) patients. In 20-35% patients positive for variants affecting NIPBL, congenital heart defects (CHD) are observed. ^{1 2 3 4 5}

Materials and methods

63 patients with confirmed diagnosis of CdLS and NIPBL mutations /rearrangements were enrolled in the study. In all individuals extensive cardiologic examination was conducted.

Results

Apart from small heart defects, which resolved spontaneously during the first 2 years of life, CHDs were diagnosed in 20/63 patients (32%). The most common CHDs observed were: isolated valvular pulmonary stenosis (n=4, 6%), tetralogy of Fallot (ToF) (n=3, 5%), isolated ventricular septal defect (VSD) (n=3, 5%) and mitral insufficiency (n=3, 5%). In addition, other defects such as atrial septal defect, atrioventricular canal (AVC), aortic valve defects, and hypoplastic left heart syndrome were observed in single individuals. In eight patients (13%) significant heart defects, such as ToF, AVC, VSD, required surgery in the first year of life. One of the patients (n=1, 2%), with a most complex defect, was considered unable to have treatment and subsequently died in the neonatal period. The other 12 patients (n=12, 19%) did not require any treatment and are still under cardiologic surveillance.

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