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The genetic basis of paediatric heart disease
M C Johnson1, R M Payne, J W Grant
1Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63110, USA.
Insights
Recent advances reveal single gene defects causing paediatric heart disease, impacting individuals from childhood to adulthood. Understanding these genetic causes is crucial for diagnosis and therapy.
Area of Science:
- Cardiovascular Medicine
- Genetics
- Paediatrics
Background:
- Paediatric cardiovascular diseases are often heritable with adult manifestations.
- These conditions have a significant impact on public health and the economy.
- Understanding the genetic underpinnings is key to effective management.
Purpose of the Study:
- To review recent advances in paediatric heart disease pathogenesis.
- To identify known single gene defects responsible for these conditions.
- To highlight the importance of interdisciplinary collaboration.
Main Methods:
- Literature review of recent advances in paediatric heart disease.
- Analysis of identified single gene defects and associated syndromes.
- Discussion of genetic basis, diagnosis, and therapy.
Main Results:
- Specific gene defects identified for various cardiomyopathies and congenital heart defects.
- Examples include hypertrophic/dilated cardiomyopathies, Marfan's syndrome, and CATCH-22.
- Phenotypic variability can arise from different gene defects due to developing heart responses.
Conclusions:
- Single gene defects are identifiable causes of paediatric cardiovascular disease.
- Environmental factors can influence gene expression.
- Collaboration between clinical and research specialists is vital for progress.
Abstract:
This review focuses on recent advances in understanding the pathogenesis of paediatric heart disease and on the known single gene defects responsible for these diseases. Many paediatric cardiovascular diseases are heritable, have clinical manifestations in adult ages, are frequent in occurrence, and can have significant social and economic impact. Specific gene defects have been identified for hypertrophic and dilated cardiomyopathies, mitochondrial cardiomyopathies, Marfan's syndrome, Williams syndrome, familial supravalvar aortic stenosis, CATCH-22 syndrome and atrioventricular canal. Limited phenotypic response of the developing heart accounts for similar cardiovascular defects from differing gene defects. Although environmental factors affect expression of many of these genes, it is clear that single gene defects can be identified which cause paediatric cardiovascular disease. Interactions among cardiologists, cardiovascular surgeons, geneticists and basic scientists are vitally important in understanding the genetic basis of paediatric heart disease, its diagnosis and its therapy.