[Genetics and molecular biology of the congenital, and acquired heart disease]
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Published on: May 5, 2018
David Cruz Robles1, Aurora de la Peña Díaz, Minerva Arce Fonseca
1Departamento de Patología, Instituto Nacional de Cardiología, Ignacio Chávez, Tlalpan, México, DF. crumis@hotmail.com
Insights
Molecular genetics advances aid in understanding and treating congenital heart defects, the most common birth defects. This review explores genetic insights for diagnosing and managing pediatric cardiac and vascular abnormalities.
Area of Science:
- Developmental Biology: Focuses on the embryonic formation and function of the heart.
- Medical Genetics: Investigates genetic factors influencing heart development and disease.
- Pediatric Cardiology: Addresses congenital heart defects and related vascular abnormalities.
Context:
- The heart is the first organ to develop, crucial for embryonic survival and development.
- Congenital heart defects are the most common birth defects, affecting ~1% of newborns and significantly more in miscarriages.
- Human genome sequencing provides a foundation for identifying genes related to heart development and disease.
Purpose:
- To review the application of molecular and genetic analysis in pediatric cardiology.
- To highlight the role of genetic discoveries in understanding the etiology and risk factors of cardiac and vascular abnormalities.
- To discuss how genetic information aids in the diagnosis and treatment of heart disorders.
Summary:
- Molecular genetic technologies, including chromosomal mapping, are increasingly used to identify genes involved in congenital heart defects.
- These genetic insights are crucial for understanding both the primary causes and risk factors for cardiac and vascular abnormalities.
- The review synthesizes current knowledge on molecular and genetic analysis for diagnosing and treating heart conditions.
Impact:
- Accelerated discovery of genes responsible for monogenic traits impacting heart formation.
- Improved diagnostic capabilities for congenital heart defects through genetic testing and analysis.
- Potential for novel therapeutic strategies and personalized medicine approaches in pediatric cardiology.
Abstract:
The heart is the first organ to form and function in the embryo, and all subsequent events in the life of the organism depend on the heart's ability to match its output with the organism's demands for oxygen and nutrients. Abnormalities in heart formation, the most common form of human birth defects, afflict nearly 1% of newborns, and their frequency in spontaneously aborted pregnancies is estimated to be tenfold higher. With the completion of the sequencing of the human genome, molecular genetic efforts directed at finding genes for monogenic traits have accelerated dramatically. 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 provided by molecular and genetic analysis in the diagnosis, treatment and overall heart disorders.
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