Related Experiment Video
Updated: May 30, 2025
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System
Published on: May 5, 2018
Decoding Hearts: Genetic Insights and Clinical Strategies in Congenital Heart Disease
Christopher M Stark1, Brian N Hughes2, John Paul Schacht1
1Department of Pediatrics, Walter Reed National Military Medical Center, Bethesda, Maryland.
Insights
Understanding the genetics of congenital heart disease (CHD) is crucial for managing and counseling families. This review covers cardiac embryology, genetic pathways, and evaluation for syndromic structural CHD.
Area of Science:
- Cardiovascular Genetics
- Developmental Biology
- Medical Genetics
Background:
- Structural congenital heart disease (CHD) encompasses diverse cardiac anomalies with varied origins.
- Genetic factors, including monogenic, oligogenic, or polygenic variants, play a significant role in CHD development.
- Understanding these genetic underpinnings is vital for informed clinical management and genetic counseling.
Purpose of the Study:
- To review cardiac embryology concerning genetic signaling pathways in CHD.
- To summarize genetic factors implicated in both syndromic and nonsyndromic structural CHD.
- To provide an overview of genetic evaluation for infants with common syndromic CHD.
Main Methods:
- Literature review focusing on cardiac embryology and genetics of CHD.
- Synthesis of information on genetic signaling pathways and proteins involved in CHD.
- Overview of current genetic diagnostic approaches for syndromic CHD.
Main Results:
- Cardiac development is influenced by specific genetic signaling pathways and proteins.
- Both syndromic and nonsyndromic CHD have identifiable genetic causes, ranging from single mutations to complex polygenic variants.
- Genetic evaluation aids in diagnosing and understanding the etiology of syndromic CHD.
Conclusions:
- A comprehensive understanding of cardiac embryology and genetics improves CHD diagnosis and family counseling.
- Identifying genetic causes of CHD is essential for personalized management strategies.
- Genetic evaluation is a key component in the workup of infants with syndromic structural heart defects.
Abstract:
Structural congenital heart disease (CHD) represents a heterogeneous group of cardiac anomalies of variable embryologic and molecular origins. A basic understanding of the genetics implicated in nonsyndromic (isolated) and syndromic structural CHD can better inform management decisions and family counseling. When a fetus or neonate develops CHD as a result of a genetic cause, it can be due to a mutation or a monogenic, oligogenic, or polygenic pathogenic variant. In this review, we summarize basic cardiac embryology in the context of genetic signaling pathways and proteins that are commonly implicated in syndromic and nonsyndromic structural CHD. We also provide an overview of the basic genetic evaluation in infants with common syndromic structural CHD.
Related Concept Videos
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
01:28Human Genetics
The complex relationship between genetics and psychology is observable through common biological components such...
02:59Animal Mitochondrial Genetics
01:23Behavioral Genetics and Its Designs
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...