Congenital heart defect

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}} A congenital heart defect is a defect in the structure of the heart and great vessels of the newborn. Most heart defects either obstruct blood flow in the heart or vessels near it or cause blood to flow through the heart in an abnormal pattern. Heart defects are among the most common birth defects, and are the leading cause of birth defect-related deaths.

Contents 1 Overview 2 Epidemiology 3 Aetiology 4 Defects 5 External links

Overview

Congenital heart defects can be broadly categorised into two groups, acyanotic heart defects ('pink' babies) and cyanotic heart defects ('blue' babies). The acyanotic defects may further be divided into obstructive heart defects and shunts.

Epidemiology

Slightly less than 1% of all newborn infants have congenital heart disease. Eight defects are more common than all others and make up 80% of all congenital heart diseases, whereas the remaining 20% consist of many independently infrequent conditions or combinations of several defects. Ventricular septal defect (VSD) is generally considered to be the most common type of malformation, accounting for about <math>1/3</math> of all congenital heart defects.

The incidence is higher when a parent or a sibling has a heart defect (4-5%), in stillborns (3-4%), abortuses (10-25%), and premature infants (2%).

The number of adults with problems connected to a congenital heart defect is rising and is passing the number of children with congenital heart defects in most western countries. This group is called GUCH patients.

Aetiology

The cause of most congenital heart disease is unknown.

Where a cause is known, it may be of a multifactorial origin and/or a result of genetic predisposition and environmental factors.

Known genetic causes of heart disease includes chromosomal abnormalities such as trisomies 21, 13, and 18, as well as a range of newly recognised genetic point mutations, point deletions and other genetic abnormalities as seen in syndromes such as CATCH 22, familial ASD with heart block, Alagille syndrome, Noonan syndrome, and many more.

Known antenatal environmental factors include maternal infections (Rubella), drugs (alcohol, hydantoin, lithium and thalidomide) and maternal illness (diabetes mellitus, phenylketonuria, and systemic lupus erythematosus).

Defects

• Aortic stenosis
• Atrial septal defect (ASD)
• Atrioventricular septal defect (AVSD)
• Coarctation of the aorta (CoA)
• Dextrocardia
• Ebstein's anomaly
• levo-Transposition of the great arteries (l-TGA)
• Partial anomalous pulmonary venous connection (PAPVC)
• Patent ductus arteriosus (PDA)
• Pulmonary atresia
• Pulmonary stenosis
• Tetralogy of Fallot (ToF)
• Total anomalous pulmonary venous connection (TAPVC)
• dextro-Transposition of the great arteries (d-TGA)
• Tricuspid atresia
• Truncus arteriosus
• Ventricular septal defect (VSD)

This is an incomplete list, which may never be able to satisfy certain standards for completeness. Revisions and additions are welcome.

External links

• Adult Congenital Heart Association, US-based nonprofit organization for adults with congenital heart defects, their family members, and health care professionals
• Card-AG, The Cardiologycal Working Group of the University Pediatric Clinic Munster
• British Heart Foundation details on congenital heart defects
• The Congenital Heart Information Network

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