Molecular genetics of congenital heart disease

Area of Science:

• Genetics
• Pediatrics
• Cardiology

Background:

• Congenital heart disease (CHD) is the most common birth defect and a major cause of childhood mortality.
• Despite improved interventions, survivors often face significant comorbidities impacting quality of life.
• The causes of CHD are multifactorial, involving genetic and environmental influences, with many cases remaining unexplained.

Purpose of the Study:

• To provide an updated review of the genetic factors contributing to CHD.
• To summarize recent advancements in identifying genetic causes of CHD.
• To discuss the role of non-coding mutations and complex inheritance in CHD etiology.

Main Methods:

• Literature review of recent advancements in genetic testing technologies for CHD.
• Synthesis of established genetic contributions, including chromosomal aberrations and gene mutations.
• Discussion of emerging findings on non-coding mutations and complex inheritance patterns.

Main Results:

• Genetic testing has enhanced the identification of CHD causes.
• Established genetic factors include mutations in transcription factors, cardiac proteins, chromatin modifiers, cilia proteins, and signaling pathways.
• Recent research highlights the significance of non-coding mutations and complex genetic inheritance.

Conclusions:

• Genetic factors play a substantial role in the etiology of congenital heart disease.
• Continued research into genetic and epigenetic factors is crucial for understanding and managing CHD.
• Advancements in genetic analysis offer improved diagnostic capabilities and potential therapeutic targets for CHD.