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Updated: Jun 21, 2025

Analysis of Congenital Heart Defects in Mouse Embryos Using Qualitative and Quantitative Histological Methods
Published on: March 10, 2020
Congenital heart disease: types, pathophysiology, diagnosis, and treatment options
Xiao Meng1,2, Ming Song1,2, Kai Zhang1,2
1Department of Cardiology State Key Laboratory for Innovation and Transformation of Luobing Theory Qilu Hospital of Shandong University Jinan China.
Insights
Congenital heart disease (CHD) poses lifelong health risks. This review updates knowledge on CHD pathophysiology, diagnosis, and treatment, highlighting areas needing further research for better patient outcomes.
Area of Science:
- Cardiology
- Pediatric Cardiology
- Medical Research
Background:
- Congenital heart disease (CHD) encompasses structural heart abnormalities with lifelong implications.
- Patients with CHD face increased risks of morbidity, reduced survival, and complications like heart failure and stroke.
- Despite advancements, the etiology and pathophysiology of some CHDs remain unclear, complicating management.
Purpose of the Study:
- To provide an updated review of the pathophysiology, diagnosis, and treatment of common congenital heart diseases.
- To identify and highlight current knowledge gaps in understanding and managing various CHD types.
- To enhance the understanding of congenital heart disease for improved clinical practice.
Main Methods:
- Comprehensive literature review of congenital heart disease.
- Analysis of current understanding of pathophysiology, diagnosis, and treatment strategies.
- Identification of areas with limited knowledge and ongoing research needs.
Main Results:
- Review covers common CHDs: patent foramen ovale, septal defects, patent ductus arteriosus, coarctation of the aorta, transposition of great arteries, and others.
- Discussion highlights knowns and unknowns in CHD etiology, pathophysiology, and clinical management.
- Identified areas requiring further investigation to improve diagnostic accuracy and therapeutic efficacy.
Conclusions:
- Congenital heart disease management remains challenging due to its prevalence and lifelong impact.
- Further research is crucial to elucidate unknown aspects of CHD pathophysiology and improve patient prognoses.
- Addressing knowledge gaps will aid in refining international guidelines and enhancing quality of life for CHD patients.
Abstract:
Congenital heart disease (CHD) is a structural abnormality of the heart and/or great vessels and patients with CHD are at an increased risks of various morbidities throughout their lives and reduced long-term survival. Eventually, CHD may result in various complications including heart failure, arrhythmias, stroke, pneumonia, and sudden death. Unfortunately, the exact etiology and pathophysiology of some CHD remain unclear. Although the quality of life and prognosis of patients with CHD have significantly improved following technological advancement, the influence of CHD is lifelong, especially in patients with complicated CHD. Thus, the management of CHD remains a challenge due to its high prevalence. Finally, there are some disagreements on CHD among international guidelines. In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, congenitally corrected transposition of the great arteries, coronary anomalies, left and right ventricular outflow tract obstruction, tetralogy of Fallot and Ebstein anomaly. In particular, we focus on what is known and what is unknown in these areas, aiming to improve the current understanding of various types of CHD.
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