Many other heart defects may also occur. (See also Overview of Heart Defects.)
Most of these defects are very rare. Some of these include
Symptoms of these defects vary, depending on the specific defect and its severity, but they may cause a bluish color in the skin (cyanosis) or an abnormal heart rhythm. Doctors often suspect a heart defect when they hear a heart murmur during an examination with a stethoscope, but usually they do echocardiography (ultrasonography of the heart) to confirm the diagnosis.
Surgical repair of the defect is usually needed.
Aortopulmonary window is an abnormal opening between the aorta and the main pulmonary artery that takes blood to the lungs. It is very rare. Aortopulmonary window can occur on its own or occur with other heart defects, such as atrial septal defect, coarctation of the aorta, or tetralogy of Fallot.
Symptoms are those of left-to-right shunt. Large left-to-right shunts cause too much blood to flow to the lungs and too much blood to return to the left ventricle, which may lead to signs of heart failure (for example, rapid breathing, poor feeding, easy tiring, excessive sweating). During infancy, these symptoms often result in failure to thrive. A large left-to-right shunt also eventually leads to high blood pressure in lung arteries (pulmonary hypertension). Most infants with an aortopulmonary window have a heart murmur.
Doctors make the diagnosis based on what they find on examining the infant and results of imaging tests, usually echocardiography.
Surgical repair of aortopulmonary window should be done as soon as possible after diagnosis.
The most common heart birth defect is bicuspid aortic valve. The aortic valve is the valve that opens to allow blood to flow from the left ventricle into the aorta and then to the body. A normal aortic valve has three cusps, or leaflets. When the valve is bicuspid, it has only two cusps instead of three, so it may not open normally (a condition called aortic stenosis) or may not close normally, allowing blood to leak back into the heart instead of going to the body (called aortic regurgitation).
A bicuspid aortic valve may sometimes cause problems in infants, older children, and adolescents, but it usually does not cause problems until adulthood. People with a bicuspid aortic valve are at risk for aortic regurgitation, aortic stenosis, enlargement of the aorta, and infection of the heart valves (infective endocarditis). The specific symptoms depend on the complications that develop. People with infective endocarditis may develop fever. If aortic stenosis or aortic regurgitation develops, the person may tire easily, and have shortness of breath, fainting, awareness of heartbeats (palpitations), and chest pain.
Doctors suspect a bicuspid aortic valve if they hear a heart murmur or a clicking sound during an examination with a stethoscope. Echocardiography is then done to confirm the diagnosis.
The aortic valve may be repaired or replaced if aortic regurgitation or stenosis occurs. Aortic stenosis can also sometimes be treated with balloon dilation during a cardiac catheterization procedure.
Because there is a family tendency (heredity) to bicuspid aortic valves, close relatives of people with a bicuspid aortic valve may undergo screening echocardiography.
Congenitally corrected transposition of the great arteries is relatively rare. In congenitally corrected transposition of the great arteries, the normal connections of the aorta and the pulmonary artery are reversed, but the lower heart chambers (the ventricles) are also reversed, thus "correcting" the abnormal connections. Most affected infants have other heart abnormalities as well, such as ventricular septal defect, pulmonic stenosis, and Ebstein anomaly or another defect of the tricuspid valve.
These abnormalities result in a wide range of symptoms. An abnormally slow heart rhythm (called heart block) may develop. In heart block, the electrical signals from the upper chambers of the heart do not travel down to the lower chambers. Heart blocks is treated with a pacemaker.
As affected children reach adulthood, a common concern is the development of worsening function of the muscular wall of the right ventricle, which may cause heart failure.
If severe dysfunction develops, heart transplantation may be needed.
In double outlet right ventricle, both the aorta and the pulmonary artery are connected to the right ventricle and no artery attaches to the left ventricle. Infants with double outlet right ventricle also have a hole between the ventricles (ventricular septal defect). Oxygen-rich blood in the left ventricle flows through the ventricular septal defect, allowing the oxygen-rich blood to mix with the oxygen-poor blood in the right ventricle before getting pumped out of the heart. Therefore, some oxygen-poor blood is circulated to the body. Symptoms vary depending on the associated abnormalities in the heart such as pulmonic valve stenosis. Symptoms include rapid breathing, poor feeding, easy tiring, and/or bluish color of the lips, nail beds, and skin (cyanosis). Surgical repair is needed.
Ebstein anomaly is an abnormality of the tricuspid valve that causes the valve to leak blood backward into the atrium. Some studies have shown an increased risk of this abnormality in infants whose mothers used the drug lithium during pregnancy. Atrial septal defect, pulmonic valve stenosis, and Wolff-Parkinson-White syndrome often occur together with this abnormality.
Newborns may be bluish in color (indicating the body is not receiving enough oxygen), or symptoms may not develop until adulthood, when an abnormal heart rhythm occurs.
If the abnormal tricuspid valve causes severe symptoms, the valve is surgically repaired.
In pulmonary atresia, the pulmonic (pulmonary) valve does not form properly and does not open, so blood does not flow into the lungs and pick up oxygen. Therefore, oxygen-poor blood is circulated to the body. Pulmonary atresia frequently occurs together with other heart disorders and with abnormalities of the coronary arteries. The symptoms and surgical treatment options depend on what type of other abnormalities are also present.
Single ventricle abnormalities include any complex heart defect in which there is only one functional ventricle. Symptoms depend on the exact abnormality. Most infants have a bluish color of the skin (cyanosis). Infants with single ventricle usually need treatment in an intensive care unit shortly after birth. Surgical repair is needed.
Tricuspid atresia is absence of the tricuspid valve accompanied by an underdeveloped right ventricle. Other heart defects are present and may include atrial septal defect, ventricular septal defect, patent ductus arteriosus, pulmonic valve stenosis, and transposition of the great arteries. Infants have a bluish color of the skin (cyanosis). Other symptoms depend on what other abnormalities are also present. . Diagnosis is by echocardiography. Treatment is surgical repair.
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