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BMC Medical Genetics

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Open Access 01-12-2012 | Case report

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

Authors: Bert Nagel, Ursula Gruber-Sedlmayr, Sabine Uhrig, Claudia Stöllberger, Eva Klopocki, Josef Finsterer

Published in: BMC Medical Genetics | Issue 1/2012

Abstract

Background

Left 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 presentation

A 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.

Conclusions

Despite 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.

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The pre-publication history for this paper can be accessed here:http://www.biomedcentral.com/1471-2350/13/60/prepub

Title: Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants
Authors: Bert Nagel
Ursula Gruber-Sedlmayr
Sabine Uhrig
Claudia Stöllberger
Eva Klopocki
Josef Finsterer
Publication date: 01-12-2012
Publisher: BioMed Central
Published in: BMC Medical Genetics / Issue 1/2012
Electronic ISSN: 1471-2350
DOI: https://doi.org/10.1186/1471-2350-13-60

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Background

Case presentation

Conclusions

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background

Case presentation

Conclusions

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