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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, although other defects affecting heart
rhythm (such as long QT syndrome) can also occur. Heart defects are among the most common
birth defects and are the leading cause of birth defect-related deaths.
[edit] Cause
The cause may be due to a genetic predisposition or an environmental exposure during
pregnancy.
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 Velo-Cardio-Facial Syndrome, 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).
[edit] Classification
[edit] Hypoplasia
Hypoplasia can affect the heart, which typically results in the failure of either the right ventricle
or the left ventricle to develop adequately, leaving only one side of the heart capable of pumping
blood to the body and lungs. Hypoplasia of the heart is rare but is the most serious form of CHD;
it is called hypoplastic left heart syndrome when it affects the left side of the heart and
hypoplastic right heart syndrome when it affects the right side of the heart. In both conditions,
the presence of a patent ductus arteriosus (and, when hypoplasia affects the right side of the
heart, a patent foramen ovale) is vital to the infant's ability to survive until emergency heart
surgery can be performed, since without these pathways blood cannot circulate to the body (or
lungs, depending on which side of the heart is defective). Hypoplasia of the heart is generally a
cyanotic heart defect.
Obstruction defects occur when heart valves, arteries, or veins are abnormally narrow or blocked.
Common obstruction defects include pulmonary valve stenosis, aortic valve stenosis, and
coarctation of the aorta, with other types such as bicuspid aortic valve stenosis and subaortic
stenosis being comparatively rare. Any narrowing or blockage can cause heart enlargement or
hypertension.
The septum is a wall of tissue which separates the left heart from the right heart. It is
comparatively common for defects to exist in the interatrial septum or the interventricular
septum, allowing blood to flow from the left side of the heart to the right, reducing the heart's
efficiency. Ventricular septal defects are collectively the most common type of CHD, although
approximately 30% of adults have a type of atrial septal defect called patent foramen ovale.
Septal defects may or may not cause cyanosis depending on the severity of the defect.
Cyanotic heart defects are called such because they result in cyanosis, a bluish-grey discoloration
of the skin due to a lack of oxygen in the body. Such defects include persistent truncus
arteriosus, total anomalous pulmonary venous connection, tetralogy of Fallot, transposition of the
great vessels, and tricuspid atresia.
[edit] Defects
Aortic stenosis
Atrial septal defect (ASD)
Atrioventricular septal defect (AVSD)
Brugada syndrome
Cardiomyopathy
Dextrocardia
DiGeorge's Syndrome
Double outlet right ventricle (DORV)
Ebstein's anomaly
Hypoplastic left heart syndrome (HLHS)
Hypoplastic right heart syndrome (HRHS)
levo-Transposition of the great arteries (l-TGA)
Patent ductus arteriosus (PDA)
Pulmonary atresia
Pulmonary stenosis
tetralogy of Fallot (ToF)
dextro-Transposition of the great arteries (d-TGA)
Tricuspid atresia
Truncus arteriosus
Ventricular septal defect (VSD)
Bicuspid aortic valve
Mitral stenosis
Shone's syndrome/ Shone's complex / Shone's anomaly
Scimitar syndrome (SS)
This is an incomplete list, which may never be able to satisfy certain standards for
completion. You can help by expanding it with reliably sourced additions.
single ventricle Some conditions are not in the heart itself, but are closely related to the region,
and are often treated in the same category as the above conditions.
[edit] Management
Sometimes CHD improves with no treatment necessary. At other times the defect is so small and
does not require any treatment. Most of the time CHD is serious and requires surgery and/or
medications. Medications include diuretics, which aid the baby in eliminating water, salts, and
digoxin and in strengthening the contraction of the heart. This slows the heartbeat and removes
some fluid from tissues. Some defects require surgical procedures to repair as much as possible
to restore circulation back to normal. In some cases, multiple surgeries are needed to be
performed to help balance the circulation. Interventional cardiology now offers patients
minimally invasive alternatives to surgery. Device closures can now be treated with a standard
transcatheter procedure using a closure device mounted on a balloon catheter.[citation needed]