Congenital Heart Disease from Infancy to Adulthood: Pathology and Nosology

Area of Science:

• Cardiology
• Genetics
• Developmental Biology

Background:

• Congenital heart diseases (CHDs) are defined as structural heart anomalies present from birth due to embryological maldevelopment.
• Adults with CHDs often have a history of successful childhood surgeries and require ongoing screening.
• Current understanding focuses on structural defects affecting cardiac structures like the aorta, valves, and myocardium.

Purpose of the Study:

• To re-evaluate the pathology and nosology of CHDs, particularly in adulthood.
• To propose an expanded definition of CHDs in the era of molecular medicine.
• To include genetically determined defects, with or without structural abnormalities, under the umbrella of CHDs.

Main Methods:

• Review of current CHD definitions and adult patient management.
• Analysis of CHD pathology and nosology across various cardiac structures.
• Postulation of a molecular-based definition for congenital cardiac disorders.

Main Results:

• Adult CHD management requires attention to diverse affected cardiac structures.
• Genetically determined disorders present from conception are proposed as CHDs.
• The molecular background is considered a key factor in defining congenital cardiac disorders.

Conclusions:

• The definition of CHDs should evolve to encompass molecular and genetic underpinnings.
• A broader definition ensures comprehensive care for all congenital cardiac disorders.
• Recognizing genetic defects as CHDs is crucial for advancing personalized medicine in cardiology.