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Congenital heart disease: entering a new era of human genetics
Benoit G Bruneau1, Deepak Srivastava
1From the Gladstone Institute of Cardiovascular Disease, San Francisco, CA (B.G.B., D.S.); and Departments of Pediatrics (B.G.B., D.S.), Biochemistry and Biophysics (D.S.), and Cardiovascular Research Institute (B.G.B.), University of California, San Francisco.
Insights
Congenital heart disease (CHD) is a common birth defect. New genetic research indicates de novo mutations significantly contribute to about 10% of sporadic CHD cases.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Congenital heart disease (CHD) is the most common birth defect, impacting nearly 1% of newborns globally and serving as a primary cause of childhood morbidity and mortality.
- While the molecular basis of normal heart development and rare familial CHD forms are partially understood, the genetic underpinnings of sporadic CHD remain less clear.
- Epidemiological data suggest a genetic influence on sporadic CHD, yet the specific roles of inherited variants and de novo mutations have been uncertain.
Purpose of the Study:
- To investigate the contribution of de novo mutations to sporadic congenital heart disease.
- To elucidate the genetic factors underlying the most common form of human birth defect.
Main Methods:
- Utilized modern genetic approaches to analyze sporadic cases of congenital heart disease.
- Examined de novo mutations in a cohort of sporadic CHD patients.
Main Results:
- Identified de novo mutations as a significant factor in approximately 10% of sporadic CHD cases.
- Demonstrated a notable contribution of newly occurred mutations to the disease process in a subset of patients.
Conclusions:
- De novo mutations play a significant role in the etiology of sporadic congenital heart disease.
- Modern genetic techniques are crucial for uncovering the genetic causes of complex congenital disorders.
Abstract:
Congenital heart disease (CHD) remains a leading cause of morbidity and mortality in childhood and is the most common human birth defect, affecting nearly 1% of all live births worldwide. The morphogenetic events that are disrupted during cardiogenesis that lead to CHD are now partially understood, as are many of the molecular networks that guide normal heart development. Studies of rare Mendelian forms of familial CHD, as well as CHD associated with stereotypic syndromes, have revealed numerous single-gene mutations that cause CHD. However, mutations in these genes are infrequent in the more common sporadic form of CHD. Despite epidemiological evidence for an inherited component in sporadic CHD, the contribution of inherited variants or de novo mutations in the setting of CHD has been unclear. A recent landmark article in Nature begins to tackle this question by using modern genetic approaches and suggests that roughly 10% of sporadic CHD cases have de novo mutations that contribute significantly to the disease process.
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