Congenital heart defects in NIPBL

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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Jolanta Wierzba , Frank Kaiser

Presenting Author: Jolanta Wierzba

Authors: Piotr Potaz ¹, Jolanta Wierzba ², Natalia Krawczyńska ^3,4,  Karolina Sledzińska ², Bartosz Wasag ^3,4 , Frank J. Kaiser ⁵ , Ilaria Parenti ⁵, Joanna Kwiatkowska ¹

Keywords: Cornelia de Lange syndrome, NIPBL, congenital heart defects (CHD)

_{1) Department of Pediatric Cardiology and Congenital Heart Malformations, Medical University of Gdansk, Poland
2) Department of General Nursing, Medical University of G 3 Department of Biology and Medical Genetics, Medical University of Gdansk, Poland
3) Department of Biology and Medical Genetics, Medical University of Gdansk, Poland
4) Laboratory of Clinical Genetics, University Clinical Centre, Gdansk, Poland.
5) Section for Functional Genetics at the Institute of Human Genetics, Universität zu Lübeck, Lübeck, Germany}

Source:

Worldconference 2019, Germany and Netherlands, Bad NeuenAhr, published on 31 Jul 2019

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Last modified by Gerritjan Koekkoek on 2024/08/25 10:38

Created by Gerritjan Koekkoek on 2019/07/09 16:27