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Genetics of congenital heart disease: the contribution of the noncoding regulatory genome
Alex V Postma1,2, Connie R Bezzina3, Vincent M Christoffels1
1Department of Anatomy, Embryology & Physiology, Academic Medical Center, Amsterdam, The Netherlands.
Insights
Congenital heart disease (CHD) is a common birth defect with complex causes. Advances in genetics, including next-generation sequencing, are improving our understanding of its underlying genetic factors.
Area of Science:
- Cardiology
- Genetics
- Developmental Biology
Background:
- Congenital heart disease (CHD) is the most prevalent birth defect, impacting survival and long-term health.
- Increased life expectancy for CHD patients is attributed to surgical advancements and improved longitudinal care.
- The genetic basis of CHD is complex and heterogeneous, involving chromosomal abnormalities and gene mutations, yet often remains unidentified.
Purpose of the Study:
- To review current understanding of the genetic factors contributing to CHD.
- To highlight the impact of new technologies and insights on CHD research.
- To focus on regulatory regions of developmental genes in the context of CHD.
Main Methods:
- Review of existing literature on CHD etiology and genetics.
- Discussion of novel insights, including alternative inheritance paradigms.
- Focus on next-generation sequencing technologies for genetic analysis.
Main Results:
- Genetic factors, though complex and often elusive, play a significant role in CHD.
- Next-generation sequencing and new insights offer powerful tools for uncovering genetic causes.
- Variations and mutations in regulatory regions of key developmental genes are implicated in CHD.
Conclusions:
- Despite challenges, significant progress is being made in understanding the genetic underpinnings of CHD.
- Future research leveraging advanced technologies will be crucial for identifying causal genetic factors.
- A deeper understanding of genetic contributions will inform diagnosis, treatment, and prevention strategies for CHD.
Abstract:
Congenital heart disease (CHD) is the most common type of birth defect. The advent of corrective cardiac surgery and the increase in knowledge concerning the longitudinal care of patients with CHD has led to a spectacular increase in life expectancy. Therefore, >90% of children with CHD, who survive the first year of life, will live into adulthood. The etiology of CHD is complex and is associated with both environmental and genetic causes. CHD is a genetically heterogeneous disease that is associated with long-recognized chromosomal abnormalities, as well as with mutation in numerous (developmental) genes. Nevertheless, the genetic factors underlying CHD have remained largely elusive, and it is important to realize that in the far majority of CHD patients no causal mutation or chromosomal abnormality is identified. However, new insights (alternative inheritance paradigms) and technology (next-generation sequencing) have become available that can greatly advance our understanding of the genetic factors that contribute to CHD; these will be discussed in this review. Moreover, we will focus on the discovery of regulatory regions of key (heart) developmental genes and the occurrence of variations and mutations within, in the setting of CHD.
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