Key result
Array-CGH detects six previously undescribed inherited copy number variants suggesting they are rare benign variants.
Why the study?
Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology associated with various cardiac and extracardiac abnormalities including epilepsy and facial dysmorphism.
Case Report (n=1)
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A complex phenotype of LVHT with multiple cardiac and extracardiac anomalies in a child did not reveal de novo pathogenic CNVs by array-CGH, suggesting the need for whole exome sequencing.
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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Nagel et al. (2012) conducted a case report in Left ventricular hypertrabeculation/noncompaction (LVHT) (n=1). Microarray-based comparative genomic hybridization (array CGH) was evaluated on Detection of copy number variants. Microarray-based comparative genomic hybridization detected six previously undescribed copy number variants inherited from the parents, suggesting they are rare benign variants.
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