Congenital heart defects are observed in approximately 8 out of every 1,000 live births and are one of the most common causes of child morbidity and mortality worldwide. The causes of congenital heart defects are diverse and often multifactorial. In recent years, modern cytogenetic and molecular genetic methods have been used to identify a growing number of genetic causes for congenital heart defects. It is now assumed that a significant proportion of congenital cardiac malformations are genetic, whereas suspected external factors are still largely unexplained. Congenital heart defects can occur frequently in families, in both isolated and syndromic forms. Genes associated with heart defects code for transcription factors, chromatin regulators, growth factors and signal transduction pathways that play a crucial role in normal heart development. More than 80 genes are known to be associated with isolated and more common syndromic forms of congenital heart defect. Using new sequencing technologies (NGS), it is possible to investigate genetic causes of congenital heart defects such as atrial septum defect, ventricular septum defect, tetralogy of Fallot, transposition of the large arteries, hypoplastic left heart syndrome, aortic stenosis, pulmonary stenosis, conotruncal defects, Ebstein anomaly and heterotaxia as well as RASopathies and other syndromes in familial cases or when an overriding syndrome is suspected.
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