[Congenital heart defects of the septa, endocardial cushions and the conotruncus]

Area of Science:

• Embryology and developmental biology
• Cardiovascular pathology
• Medical genetics

Context:

• Congenital heart defects (CHDs) arise during early embryogenesis, before the ninth week of gestation.
• Genetic mutations are increasingly implicated in CHDs, yet molecular diagnosis remains elusive.
• Current imaging techniques, while advanced, are complemented by post-mortem examination for definitive diagnosis of complex malformations.

Purpose:

• To elucidate the pathomorphology of septal defects, including atrioventricular septal defects.
• To provide characteristic and distinguishing features for diagnosing complex heart malformations.
• To bridge the gap between molecular pathology and diagnostic understanding of CHDs.

Summary:

• All congenital heart defects originate before the ninth week of gestation.
• While genetic links to CHDs are growing, direct molecular diagnosis is not yet possible.
• Post-mortem examination, guided by pathomorphological knowledge, remains the gold standard for complex heart malformations, particularly septal defects.

Impact:

• Enhances understanding of congenital heart defect development and diagnosis.
• Provides critical information for pathologists and clinicians diagnosing complex cardiac anomalies.
• Contributes to the accurate identification of atrioventricular septal defects within broader malformation categories like conotruncal defects.