Genetik der angeborenen Herzfehler

Abstract

Congenital heart disease (CHD) is the most common congenital malformation in humans. Morphologically, it is possible to distinguish different forms, some of which, such as non-compaction cardiomyopathy, show a significant overlap with cardiomyopathies. Currently, our understanding of the underlying genetics is limited, because of its complexity, in which reduced penetrance and variable expressivity are often observed. In addition, the available literature is often diverse, and consists of inadequate genetic evidence. Therefore, the focus of this review is to present the genes known to be involved in CHD, based on stringent criteria. With the use of next generation sequencing (NGS) technologies, an increasing number of relevant genetic connections can be clarified. It not only helps to establish strong genotype–phenotype associations, but also to identify novel CHD genes, which will be urgently needed in the future given the rare occurrence of recurrent CHD-associated mutations in the same gene. To achieve this goal, it will be necessary to establish nationwide and international studies and make published datasets available to the community. The same applies to diagnostic datasets. Such an approach would be helpful in obtaining gene panel diagnostics and in classifying CHD into therapeutic subgroups.