Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Nagel, B; Gruber-Sedlmayr, U; Uhrig, S; Stöllberger, C; Klopocki, E; Finsterer, J.
Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants.
BMC Med Genet. 2012; 13(8):60-60
Doi: 10.1186/1471-2350-13-60
(- Case Report)
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- Führende Autor*innen der Med Uni Graz
- Nagel Bert Hermann Philipp
- Co-Autor*innen der Med Uni Graz
- Gruber-Sedlmayr Ursula
- Uhrig Sabine
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Aortic Valve Stenosis - diagnosis
- Child, Preschool -
- DNA Copy Number Variations -
- Epilepsy - diagnosis
- Face - abnormalities
- Female -
- Humans -
- Isolated Noncompaction of the Ventricular Myocardium - diagnosis
- Oligonucleotide Array Sequence Analysis -
- Pulmonary Valve Stenosis - diagnosis
- Find related publications in this database (Keywords)
- Cardiomyopathy
- Congenital heart disease
- Neurology
- Pediatrics
- Array CGH
- Hypertrabeculation
- Seizures