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Genetic basis of syndromes associated with congenital heart disease
1Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, New York 10029, USA. gelbb01@doc.mssm.edu
Insights
Syndromic congenital heart defects (CHDs) offer insights into genetic causes. Understanding these rare genetic disorders aids in comprehending nonsyndromic CHDs.
Area of Science:
- Genetics
- Developmental Biology
- Medicine
Background:
- Congenital heart defects (CHDs) are frequently observed in various genetic syndromes.
- The co-occurrence of seemingly unrelated developmental abnormalities in these syndromes has long intrigued researchers.
- Advances in human genetics have elucidated the roles of chromosomal abnormalities, genomic alterations, and point mutations in syndromic CHDs.
Purpose of the Study:
- To review recent advancements in identifying the molecular underpinnings of syndromic CHDs.
- To highlight how studying rare genetic syndromes contributes to understanding common CHDs.
Main Methods:
- Review of recent literature on syndromic CHD genetics.
- Analysis of genetic and genomic data from patients with syndromic CHDs.
- Discussion of genotype-phenotype correlations.
Main Results:
- Identification of specific genes and genetic mechanisms responsible for various syndromic CHDs.
- Demonstration of shared genetic pathways between syndromic and nonsyndromic CHDs.
- Progress in understanding the molecular basis of complex developmental perturbations.
Conclusions:
- Genetic research into syndromic CHDs has significantly advanced our knowledge of heart development.
- Insights gained from rare mendelian disorders are crucial for addressing nonsyndromic CHDs.
- Continued investigation into the molecular basis of syndromic CHDs promises further breakthroughs in cardiovascular medicine.
Abstract:
Numerous syndromes affecting patients have phenotypes that include congenital heart defects (CHDs). These disorders have fascinated physicians for many years, raising questions about how seemingly disparate aspects of human development can be perturbed together in striking, but consistent, ways. Paralleling the major advances in human genetics during recent decades, we have come to understand that some of these syndromes arise from gross defects in chromosomal number, some from subtler alterations in genomic regions, and still others from point mutations in specific genes. These disorders, largely mendelian in nature, have provided researchers with the wherewithal to discover disease genes underlying CHD. Although some of these medical conditions are relatively rare, their solution has often provided insights that could be applied toward understanding the basis of nonsyndromic CHD. In this review, recent progress toward uncovering the molecular basis of several forms of syndromic CHD is discussed.