Congenital is a medical adjective meaning ‘present at birth’ or ‘existing at the time of birth’. It applies to conditions, abnormalities, or traits that a person is born with, regardless of whether they were caused by genetic factors, environmental influences during fetal development, or a combination. The term does not imply hereditary transmission, as some congenital conditions arise from new (de novo) mutations or environmental exposures during pregnancy.
In cardiology, congenital heart disease (CHD) refers to structural or functional abnormalities of the heart present from birth. CHD is the most common group of congenital disorders, affecting approximately 8 per 1,000 live births in the UK. Examples include ventricular septal defect, atrial septal defect, aortic coarctation, tetralogy of Fallot, and transposition of the great arteries.
Congenital conditions may be associated with chromosomal abnormalities (such as the link between Down syndrome and atrioventricular septal defect, or Turner syndrome and aortic coarctation) or may occur in isolation. Environmental factors that can contribute to congenital conditions include certain infections (such as rubella), medications, excessive alcohol intake, and uncontrolled diabetes in the mother during pregnancy.
Many congenital heart conditions are now detected antenatally by fetal echocardiography during routine pregnancy ultrasound. With modern surgical and catheter-based treatment, the majority of people born with congenital heart conditions survive to adulthood and are followed up in adult congenital heart disease (ACHD) specialist services. The risk of sudden cardiac arrest in adults with CHD depends on the specific condition and the adequacy of repair or palliation.
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