Heart diseases that are present at birth are called "congenital heart disease". Congenital heart disease is a type of defect or malformation in one or more structures of the heart or blood vessels that occurs before birth.
Some of these require no treatment as they are self correcting while others may require either minor or major reconstructive surgery of the heart.
Causes of Congenital Heart Disease
In spite of identifying in many cases of congenital heart defects the exact cause of the defects cannot e ascertained.However, there are some factors that are associated an increased enhance of getting congenital heart disease.
These risks factors include : -
Genetic or chromosomal abnormalities in the child such as down syndrome.
Taking certain medications or alcohol or drug abuse during pregnancy
Maternal viral infection such as rubella (german measles) in the 1st trimester of pregnancy.
Types of Congenital Heart Disease
Congenital heart disease changes the normal flow of blood through the heart because some part of the heart didn't develop properly before birth.
There are many types of congenital heart defects. They include simple ones such as hole in the interior walls of the heart that allows blood from left to right side of the heart to mix or a narrowed valve that blocks the flow of blood to the lungs or other parts of the body. "Hypoplastic" is another defect affecting children where part of the heart may be selectively under developed. Depending on the child's development, these defects may occur as single abnormalities or in a various combinations.
Congenital heart disease is often first detected when your doctor hears an abnormal heart sound or heart murmur when listening to your heart.
Depending on the type of murmur your doctor hears, he or she may order further testing such as : -
Echocardiogram or transesophageal echocardiogram (TEE)
Intravascular ultrasound (IVUS)
Chest X-ray
Electrocardiogram(ECG or EKG)
MRI
Positron emission tomography(PET) scan
Symptoms of Congenital Heart Disease
The symptoms of congenital heart disease in infants and children include : -
Cyanosis(a bluish tint into the skin,fingernails and lips)
Fast breathing and poor feeding
Poor weight gain
Recurrent lung infection
Inability to exercise
Congenital heart defects may be diagnosed before birth,right after birth,during childhood or not until childhood.It is possible to have a defect and no symptoms at all,in adults,
if symptoms are present they may include : -
Shortness of breath
Limited ability to exercise
Types of Congenital Heart Disease
Atrial Septal Defect : -
An atrial septal defect (ASD) is a hole in that septum. Atrial septal defects are one of the most common heart defects seen.
When an atrial septal defect is present, blood flows through the hole primarily from the left atrium to the right atrium. This shunting increases the blood volume in the right atrium which means more blood flows through the lungs than would normally.
If left untreated, atrial septal defect may cause problems in adulthood. These problems may include pulmonary hypertension (which is high blood pressure in the lungs), congestive heart failure (weakening of the heart muscle), atrial arrhythmias (which are abnormal rhythms or beating of the heart) and an increased risk of stroke.Know More.
Ventricular Septal Defect : -
Ventricular septal defect (VSD) is a hole (defect) in the wall that separates the lower chambers of the heart. VSD is a congenital heart defect, which means that it is present at birth. In children with a VSD, blood usually flows through the defect from the left ventricle to the right ventricle. This causes extra blood (called volume overload) in the pulmonary arteries and lungs, and in the left atrium and left ventricle. Know More.
Atrioventricular Canal Defect : -
Atrioventricular canal defect is a combination of several abnormalities in the heart present at birth (congenital). This defect includes a hole between the chambers of the heart and problems with the valves that regulate blood flow in the heart. Atrioventricular canal defect may also be called endocardial cushion defect or atrioventricular septal defect.
Atrioventricular canal defect is often associated with Down syndrome. Infants with atrioventricular canal defect may have trouble breathing, and they may not grow normally. If left untreated, atrioventricular canal defect may cause congestive heart failure and high blood pressure in the lungs. To correct this defect, doctors often recommend surgery during the first year of life to close the hole and reconstruct the valves.
Patent Ductus Arteriosus : -
Patent ductus arteriosus (PDA) is a defect in which the temporary blood vessel connecting the left pulmonary artery to the aorta in the fetal heart fails to close after birth. In the fetal heart, blood bypasses the lungs and gets oxygen from the placenta. But when the newborn's lungs take over at birth, the body stops producing the chemicals that keep the ductus arteriosus open, and it closes naturally.
If the ductus arteriosus fails to close completely, the baby has PDA. While this problem is rare, it is sometimes associated with mothers who have had German measles (rubella) during pregnancy and with infants born before their due date (prematurely).
The result of this defect is that too much blood travels to the lungs. The severity of the problem depends on how large the opening is and how prematurely the baby was born.Know More.
Aortic Stenosis : -
Stenosis means narrowing. Aortic stenosis is then a narrowing of the aortic valve or a narrowing of the aorta directly above (supravalvar) or below (subvalvar) the aortic valve.
Normally, oxygen rich blood is pumped from the left ventricle, through the aortic valve and into the aorta. The aorta is the main artery that sends oxygen rich blood to the body. In aortic stenosis, it makes it very hard for the heart to pump blood to the body.
Depending on the severity of the stenosis, open heart surgery may be needed to correct the defect. Another option may be a balloon valvuloplasty. This procedure is done in the cardiac catheterization lab.
Pulmonary Stenosis : -
Pulmonic (pulmonary) stenosis is a narrowing of the pulmonary valve opening that increases resistance to blood flow from the right ventricle to the pulmonary artery. It is often present at birth (congenital) and thus affects children.
Pulmonic stenosis, which is rare among adults, is usually due to a birth defect. When the stenosis is severe, it is usually diagnosed during childhood, because it produces a loud heart murmur. Severe pulmonic stenosis occasionally causes heart failure in children but often does not produce symptoms until adulthood. Symptoms include chest pain (angina), shortness of breath, and fainting.
Valve replacement or surgical repair (depending upon whether the stenosis is in the valve or vessel) may be indicated. If the valve stenosis is of congenital origin, balloon valvuloplasty is another option.
Ebstein's Anomaly : -
Ebstein's anomaly is an abnormality in the tricuspid valve. The tricuspid valve separates the right atrium (the chamber that receives blood from the body) from the right ventricle (the chamber that pumps blood to the lungs).
In Ebstein's anomaly, two leaflets of the tricuspid valve are displaced downward into the pumping chamber and the third leaflet is elongated and may be adherent to the wall of the chamber. These abnormalities cause the tricuspid valve to leak blood backwards into the right atrium when the right ventricle contracts and as a result, the right atrium becomes enlarged and. If severe enough, congestive heart failure can result. More rarely, the valve is so deformed that it will not allow blood to flow easily in the normal direction (right atrium to right ventricle).In Ebstein's, the tricuspid valve is very abnormal, and leaks a lot. This ends up with the lungs getting very little blood to add oxygen to.
Ebstein's is repaired by fixing the tricuspid valve, which is done by experienced congenital heart surgeons. Sometimes the tricuspid valve is replaced with an artificial valve.
Coarctation of Aorta : -
Aortic coarctation is a narrowing of part of the aorta (the major artery leading the heart). It is a type of birth defect. Coarctation means narrowing.
Coarctation of the aorta is localized narrowing of the aortic lumen that results in upper-extremity hypertension, left ventricular hypertrophy, and malperfusion of the abdominal organs and lower extremities. Symptoms vary with the anomaly's severity and range from headache, chest pain, cold extremities, fatigue, and leg claudication to fulminant heart failure and shock. A soft bruit may be heard over the coarctation site. Diagnosis is by echocardiography or by CT or MR angiography. Treatment is balloon angioplasty with stent placement, or surgical correction. .
Tetralogy Of Fallot (TOF) : -
Tetralogy of Fallot is the most common heart defect in children. The condition causes mixing of oxygen-poor blood with the oxygen-rich blood being pumped out of the heart and into the circulatory system of blood vessels.
The blood leaving the heart has less oxygen than is needed by the organs and tissues of the body, a condition called hypoxemia. Chronic (ongoing, long-term) lack of oxygen causes cyanosis, a bluish color of the skin, lips, and membranes inside the mouth and nose.
The four defects characteristic of this condition include : -
An abnormal opening in the wall separating the ventricles called a ventricular septal defect (VSD) that allows blood to go directly from the right to left ventricle without going through the lungs
A narrowing of pulmonary valve or below the valve called pulmonary stenosis that partially blocks blood flow to the lungs
An overly muscular right ventricle, also called right ventricular hypertrophy
A displaced aorta, also called overriding aorta, directly over the abnormal opening between the ventricles
The defects usually are corrected during a single operation done when the baby is about 6 months old unless the baby has inadequate oxygen. If the baby is too small, there may be two surgical procedures. The first procedure connects the pulmonary arteries to the aorta or its branches by a tube called a shunt to supply blood to the lungs. Later surgery enlarges the pulmonary valve opening and closes the ventricular septal defect (VSD) with a patch so that blood flows easily into the pulmonary artery and lungs. The shunt is then removed. Know More.
Tricuspid Atresia : -
Tricuspid atresia is a type of congenital heart disease in which the tricuspid heart valve is missing or abnormally developed. The defect blocks blood flow from the right atrium to the right ventricle. The tricuspid valve, normally located between the right atrium and the right ventricle, does not develop properly during pregnancy.
The signs and symptoms of tricuspid atresia depend on the presence and size of the ventricular septal defect, and the relationship of the great arteries. Most commonly, the great arteries are normally related and there is either no ventricular septal defect, or only a small ventricular septal defect. The diagnosis of tricuspid atresia, and the associated specific problems such as a ventricular septal defect or transposition of the great arteries, can be very accurately diagnosed by echocardiography.
A surgery called the Fontan procedure is the best option for treatment of tricuspid atresia.
Pulmonary Atresia : -
Pulmonary atresia is a rare congenital heart defect that usually presents itself along with other malformations such as VSD, tricuspid atresia, or complete transposition of the great arteries.
Pulmonary atresia is the failure of the pulmonary valve to develop with the normal development of the right ventricular chamber. Arterial pulmonary atresia is the failure of the development of the main pulmonary artery, pulmonary valve, or the right ventricular chamber. Normal right heart circulation is not possible. Circulation depends on the patent foramen ovale or ASD and a PDA.
The obvious indication of PA is a newborn who becomes cyanotic (blue) in the transitional first day of life when the maternal source of oxygen (from the placenta) is removed. The degree of cyanosis is related to the presence of other defects that allow blood to mix, including a patent (open) ductus arteriosus.
To help diagnose the condition, a number of tests may be ordered including a chest x-ray, electrocardiogram (EKG) and cardiac magnetic resonance imaging (MRI).
Treatment for pulmonary atresia is determined by the age and overall health of the patient, as well as the severity of the defect and tolerance for treatment. Early treatment for pulmonary atresia may include a drug that prevents the patent ductus arteriosus from closing. Surgery is typically needed to treat pulmonary atresia. The type of corrective surgery that will be performed depends greatly on what other heart defects are present.
Hypoplastic Left Heart Syndrome : -
This is a congenital heart defect in which there is under development of left side of the heart (left ventricle, aortic valve, and aorta). This is one of the most serious congenital heart defect which needs attention almost immediately after birth. In this defect no blood goes to the left side of the heart and therefore whole systemic circulation suffers. Life persists only on some connection between right side and left side either through a patent ductus or atrial septal defect. Spontaneous closure of this connection especially the ductus leads to severe circulatory embarrassment and death of the child.
Echocardiogram is the definitive diagnosis.
Treatment begins immediately after birth, first the baby is put into ventilator to assist breathing and ductus is kept open by prostaglandin. This is followed by a complicated surgical repair in stages (called Norwood procedure).
Transposition Of The Great Arteries : -
Transposition of the great vessels is a congenital heart defect in which the 2 major vessels that carry blood away from the heart -- the aorta and the pulmonary artery -- are switched (transposed).
The heart is forming during the first 8 weeks of fetal development. The problem occurs in the middle of these weeks, allowing the aorta and pulmonary artery to be attached to the incorrect chamber.
Some congenital heart defects may have a genetic link, either occurring due to a defect in a gene, a chromosome abnormality, or environmental exposure, causing heart problems to occur more often in certain families.
Symptoms are primarily cyanosis and those of heart failure. Heart sounds and murmurs vary depending on the presence of associated congenital anomalies. Diagnosis is by echocardiography or cardiac catheterization. Definitive treatment is surgical repair.
Total Anomalous Pulmonary Venous Connection (TAPVC) : -
Total anomalous pulmonary venous connection (TAPVC) is a relatively uncommon congenital defect representing approximately 2% of all congenital heart anomalies. TAPVC encompasses a group of anomalies in which the pulmonary veins connect directly to the systemic venous circulation via persistent splanchnic connections. This abnormality results from failed transfer, in the normal developmental sequence, of pulmonary venous drainage from the splanchnic plexus to the left atrium.
Symptoms may develop soon after birth. This defect must be surgically repaired in early infancy. In surgery, the pulmonary veins are reconnected to the left atrium and the atrial septal defect is closed. When surgical repair is done in early infancy, the long-term outlook is very good. Still, lifelong follow-up is needed to make certain that any remaining problems, such as an obstruction in the pulmonary veins or irregularities in heart rhythm, are treated properly. Lifelong follow-up is important to make certain that a blockage doesn't develop in the pulmonary veins or where they're attached to the left atrium.Know More.
Persistent Truncus Arteriosus (PTA) : -
Truncus arteriosus is a rare congenital heart defect in which an opening is still present between the two ventricles (a ventricular septal defect), and the trunk of arteries, called the truncus arteriosus, is still undivided.
Symptoms associated with truncus arteriosus usually emerge in the first week of life. When an infant is born, there is a higher degree of pulmonary resistance, meaning it's more difficult to pump blood into the lungs, which have not been used in utero. However, over the first week of life, as the child breaths, the resistance in the lungs gradually drops, changing the pressure gradient across the heart's outflow. Today, physicians are more likely to recommend surgery within the first week of life, or as soon as feasible.
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