Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants

BMC Medical Genetics

Case Report

Bert Nagel¹  Ursula Gruber-Sedlmayr²  Eva Klopocki³  Sabine Uhrig⁴  Claudia Stöllberger⁵  Josef Finsterer⁵ 

[1] Department of Pediatric Cardiology, Medical University Graz, University Children’s Hospital, Auenbruggerplatz 30, A-8036, Graz, Austria;Department of Pediatrics (U. Gruber-Sedlmayr), Medical University Graz, Auenbruggerplatz 30, A-8036, Graz, Austria;Institute for Medical Genetics and Human Genetics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, D-13353, Berlin, Germany;Institute of Human Genetics, Medical University of Graz, Harrachgasse 21/8, A-8010, Graz, Austria;Krankenanstalt Rudolfstiftung, Juchgasse 25, A-1030, Wien, Austria;

关键词: Cardiomyopathy;    Congenital heart disease;    Neurology;    Pediatrics;    Array CGH;    Hypertrabeculation;    Seizures;   

DOI  :  10.1186/1471-2350-13-60

 received in 2012-03-06, accepted in 2012-07-25,  发布年份 2012

来源: Springer

【 摘 要 】

BackgroundLeft ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations. LVHT has been reported in association with various cardiac and extracardiac abnormalities like epilepsy and facial dysmorphism.Case presentationA unique combination of LVHT, atrial septal defect, pulmonary valve stenosis, aortic stenosis, epilepsy and minor facial anomalies is presented in a 5.5 years old girl. Microarray-based genomic hybridization (array-CGH) detected six previously not described copy number variants (CNVs) inherited from a clinically unaffected father and minimally affected mother, thus, most likely, not clinically significant but rare benign variants.ConclusionsDespite this complex phenotype de novo microdeletions or microduplications were not detected by array CGH. Further investigations, such as whole exome sequencing, could reveal point mutations and small indels as the possible cause.

【 授权许可】

Unknown   
© Nagel et al.; licensee BioMed Central Ltd. 2012. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.