Congenital heart defect
From Wikipedia, the free encyclopedia
| Congenital heart defect | |
| Classification and external resources | |
| ICD-10 | Q20.-Q26. |
|---|---|
| ICD-9 | 745-747 |
| DiseasesDB | 17017 |
| MeSH | D006330 |
A congenital heart defect (CHD) is a defect in the structure of the heart and great vessels of a 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.
Contents |
[edit] Epidemiology
 |
This section does not cite any references or sources. Please help improve this article by adding citations to reliable sources. Unsourced material may be challenged and removed. (August 2007) |
Affecting approximately one in every 125 babies born, congenital heart defects are the most common birth defect.[1] Forty thousand people are born each year with a CHD; 4,000 will not survive their first year.[2] Twice as many children die each year from a CHD than all forms of Pediatric Cancers combined.[2] The eight most common defects account for 80% of all congenital heart diseases, while 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 1/3 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, passing the number of children with congenital heart defects in most Western countries. This group is referred to as grown-up congenital heart disease (GUCH) patients.
[edit] Etiology
Cause: unknown.
It may be: genetic predisposition environmental
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] Major categories
[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.
[edit] Obstruction defects
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.
[edit] Septal defects
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.
[edit] Cyanotic defects
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] Other defects
[edit] Signs and Symptoms
Symptoms and signs are related to the type and severity of the heart defect. Some children have no signs while others may exhibit shortness of breath, cyanosis, chest pain, syncope, sweating, heart murmur, respiratory infections, underdeveloping of limbs and muscles, poor feeding, or poor growth, build up of blood and fluid in lungs, feet, ankles and legs.Congenital heart defects causes abnormal heart resulting inproduction of certain sound called heart murmur.Doctors can simply detect it with stethescope. However all heart murmur doesnt imply congenital heart defects. Further congenital heart defects doesn't cause chest pain or other pain in full symptoms as most general public has a wrong impression of. All of these symptoms occur at an early age of a child or infant and are typically found during a physical examination.
[edit] Treatment
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.
[edit] Defects
- Aortic stenosis
- Atrial septal defect (ASD)
- Atrioventricular septal defect (AVSD)
- Cardiomyopathy
- Dextrocardia
- Ebstein's anomaly
- Hypoplastic left heart syndrome (HLHS)
- 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/ Shones complex / Shone's anomaly.
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.
- Coarctation of the aorta (CoA)
- Interrupted aortic arch (IAA)
- Partial anomalous pulmonary venous connection (PAPVC)
- Total anomalous pulmonary venous connection (TAPVC)
[edit] References
[edit] External links
- Congenital Heart Defects at Children's Hospital Boston
- Congenital heart defect at the Open Directory Project
- Cove Point Foundation Congenital Heart Disease website - comprehensive patient education, including animations of surgeries and interventions (free)
- Clinic for Congenital Heart Defects - Heart and Diabetes Center NRW - patient information and research projects
- - Congenital Heart Disease- Congenital Heart Disease (Heart Defect) on MedicineNet
- - Designer Heart- A Congenital Heart Defect Network
|
||||||||||||||||||||||||||||||
