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Published on: May 5, 2018
[Pediatric cardiology in the genomic era]
1The Molecular Cardiology and Neuromuscular Institute. Highland Park. New Jersey 08904, USA. tmci@att.net
Insights
Molecular genetic technology is revolutionizing pediatric cardiology, improving the diagnosis and understanding of congenital heart defects, arrhythmias, and cardiomyopathies. This advancement offers new avenues for treating pediatric cardiovascular diseases.
Area of Science:
- Pediatric Cardiology
- Molecular Genetics
- Cardiovascular Pathogenesis
Context:
- Pediatric cardiovascular diseases cause significant mortality and morbidity.
- Underlying mechanisms of many pediatric cardiac conditions remain unknown.
- Molecular genetic technologies are emerging in pediatric cardiology.
Purpose:
- To review the application of molecular genetic analysis in pediatric cardiovascular disease.
- To examine the role of genetics in congenital/inherited heart defects, arrhythmias, and cardiomyopathies.
- To survey current and future molecular diagnostic and research tools in pediatric cardiology.
Summary:
- Molecular genetic technology, including chromosomal mapping and gene identification, is advancing the understanding of pediatric cardiovascular diseases.
- This review covers congenital/inherited heart defects, arrhythmias, cardiomyopathies, and acquired disorders.
- Current molecular diagnostic methods like microarray, gene-mapping, proteomics, transgenic, and stem cell technologies are discussed.
Impact:
- Enhanced diagnosis and treatment strategies for pediatric cardiovascular diseases.
- Deeper insights into the pathogenesis of congenital and acquired pediatric heart conditions.
- Future directions for clinical application and research in pediatric molecular cardiology.
Abstract:
While congenital heart disease, cardiomyopathy, arrhythmias and acquired cardiac diseases are common causes of mortality and morbidity in infants and children, the basic underlying mechanisms of many specific pediatric cardiovascular diseases still remains undetermined. Breakthroughs in molecular genetic technology have just begun to be applied in pediatric cardiology stemming from the use of chromosomal mapping and the identification of genes involved in both the primary etiology and as significant risk factors in the development of cardiac and vascular abnormalities. This review will focus on information obtained thus far by molecular genetic analysis in the diagnosis, treatment and overall understanding of pediatric cardiovascular disease pathogenesis examining both the more prevalent congenital/inherited heart defects, arrhythmias and cardiomyopathies, as well as sporadic and acquired disorders. In addition, a survey of the pediatric cardiologist's armamentarium with regards to molecular and genetic analysis is presented highlighting the current use of molecular diagnostic methods including microarray, gene-mapping, proteomic, transgenic and stem cell technologies as well as future directions in both clinical application and research.
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