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Congenital Anomalies of the Heart

(Guyton) Occasionally, the heart or its associated blood vessels are malformed during fetal life; the defect is called a congenital anomaly. There are three major types of congenital anomalies of the heart and its associated vessels: (1) stenosis of the channel of blood flow at some point in the heart or in a closely allied major blood vessel; (2) an anomaly that allows blood to flow backward from the left side of the heart or aorta to the right side of the heart or pulmonary artery, thus failing to flow through the systemic circulation-called a left-to-right shunt; and (3) an anomaly that allows blood to flow directly from the right side of the heart into the left side of the heart, thus failing to flow through the lungs-called a right-to-left shunt. Atrial Septal Defects The effects of the different stenotic lesions are easily understood. For instance, congenital aortic valve stenosis results in the same dynamic effects as aortic valve stenosis caused by other valvular lesions, namely, a tendency to develop serious pulmonary edema and a reduced cardiac output. Another type of congenital stenosis is coarctation of the aorta, often occurring near the level of the diaphragm. This causes the arterial pressure in the upper part of the body (above the level of the coarctation) to be much greater than the pressure in the lower body because of the great resistance to blood flow through the coarctation to the lower body; part of the blood must go around the coarctation through small collateral arteries. Causes of Congenital Anomalies Congenital heart disease is not uncommon, occurring in about 8 of every 1000 live births. One of the most common causes of congenital heart defects is a viral infection in the mother during the first trimester of pregnancy when the fetal heart is being formed. Defects are particularly prone to develop when the expectant mother contracts German measles; thus, obstetricians may advise termination of pregnancy if German measles occurs in the first trimester. Ventricular Septal Defects The ventricular septum is formed in a complicated manner and is complete only when the membranous part fuses with the muscular part. Ventricular septal defects are less frequent than atrial septal defects. They are found in the membranous part of the septum and can measure 1 to 2 cm in diameter. Blood under high pressure passes through the defect from left to right, causing enlargement of the right ventricle. Large defects are serious and can shorten life if surgery is not performed. Patent Ductus Arteriosus The ductus arteriosus represents the distal portion of the sixth left aortic arch and connects the left pulmonary artery to the beginning of the descending aorta (Fig. 3-38D). During fetal life, blood passes through it from the pulmonary artery to the aorta, thus bypassing the lungs. After birth, it normally constricts, later closes, and becomes the ligamentum arteriosum. Failure of the ductus arteriosus to close may occur as an isolated congenital abnormality or may be associated with congenital heart disease. A persistent patent ductus arteriosus results in highpressure aortic blood passing into the pulmonary artery, which raises the pressure in the pulmonary circulation. A patent ductus arteriosus is life threatening and should be ligated and divided surgically. After birth, the foramen ovale becomes completely closed as the result of the fusion of the septum primum with the septum secundum. In 25% of hearts, a small opening persists, but this is usually of such a minor nature that it has no clinical significance. Occasionally, the opening is much larger and results in oxygenated blood from the left atrium passing over into the right atrium (Fig. 338).

Dynamics of the Circulation with a Persistent Patent Ductus During the early months of an infant's life, a patent ductus usually does not cause severely abnormal function. But as the child grows older, the differential between the high pressure in the aorta and the lower pressure in the pulmonary artery progressively increases, with corresponding increase in backward flow of blood from the aorta into the pulmonary artery. Also, the high aortic blood pressure usually causes the diameter of the partially open ductus to increase with time, making the condition even worse. Recirculation Through the Lungs In an older child with a patent ductus, one half to two thirds of the aortic blood flows backward through the ductus into the pulmonary artery, then through the lungs, and finally back into the left ventricle and aorta, passing through the lungs and left side of the heart two or more times for every one time that it passes through the systemic circulation. These people do not show cyanosis until later in life, when the heart fails or the lungs become congested. Indeed, early in life, the arterial blood is often better oxygenated than normal because of the extra times it passes through the lungs. Diminished Cardiac and Respiratory Reserve The major effects of patent ductus arteriosus on the patient are decreased cardiac and respiratory reserve. The left ventricle is pumping about two or more times the normal cardiac output, and the maximum that it can pump after hypertrophy of the heart has occurred is about four to seven times normal. Therefore, during exercise, the net blood flow through the remainder of the body can never increase to the levels required for strenuous activity. With even moderately strenuous exercise, the person is likely to become weak and may even faint from momentary heart failure. The high pressures in the pulmonary vessels caused by excess flow through the lungs often lead to pulmonary congestion and pulmonary edema. As a result of the excessive load on the heart, and especially because the pulmonary congestion becomes progressively more severe with age, most patients with uncorrected patent ductus die from heart disease between ages 20 and 40 years. Heart Sounds: Machinery Murmur In a newborn infant with patent ductus arteriosus, occasionally no abnormal heart sounds are heard because the quantity of reverse blood flow through the ductus may be insufficient to cause a heart murmur. But as the baby grows older, reaching age 1 to 3 years, a harsh, blowing murmur begins to be heard in the pulmonary artery area of the chest, as shown in recording F, Figure 23-3. This sound is much more intense during systole when the aortic pressure is high and much less intense during diastole when the aortic pressure falls low, so that the murmur waxes and wanes with each beat of the heart, creating the so-called machinery murmur. Surgical treatment of patent ductus arteriosus is extremely simple; one need only ligate the patent ductus or divide it and then close

Note the close relationship with the left recurrent laryngeal nerve. (Guyton) During fetal life, the lungs are collapsed, and the elastic compression of the lungs that keeps the alveoli collapsed keeps most of the lung blood vessels collapsed as well. Therefore, resistance to blood flow through the lungs is so great that the pulmonary arterial pressure is high in the fetus. Also, because of low resistance to blood flow from the aorta through the large vessels of the placenta, the pressure in the aorta of the fetus is lower than normal-in fact, lower than in the pulmonary artery. This causes almost all the pulmonary arterial blood to flow through a special artery present in the fetus that connects the pulmonary artery with the aorta (Figure 23-4), called the ductus arteriosus, thus bypassing the lungs. This allows immediate recirculation of the blood through the systemic arteries of the fetus without the blood going through the lungs. This lack of blood flow through the lungs is not detrimental to the fetus because the blood is oxygenated by the placenta. Closure of the Ductus Arteriosus After Birth As soon as a baby is born and begins to breathe, the lungs inflate; not only do the alveoli fill with air, but also the resistance to blood flow through the pulmonary vascular tree decreases tremendously, allowing the pulmonary arterial pressure to fall. Simultaneously, the aortic pressure rises because of sudden cessation of blood flow from the aorta through the placenta. Thus, the pressure in the pulmonary artery falls, while that in the aorta rises. As a result, forward blood flow through the ductus arteriosus ceases suddenly at birth, and in fact, blood begins to flow backward through the ductus from the aorta into the pulmonary artery. This new state of backward blood flow causes the ductus arteriosus to become occluded within a few hours to a few days in most babies, so blood flow through the ductus does not persist. The ductus is believed to close because the oxygen concentration of the aortic blood now flowing through it is about twice as high as that of the blood flowing from the pulmonary artery into the ductus during fetal life. The oxygen presumably constricts the muscle in the ductus wall. Unfortunately, in about 1 of every 5500 babies, the ductus does not close, causing the condition known as patent ductus arteriosus.

the two ends. In fact, this was one of the first successful heart surgeries ever performed.

mentioned that CAVSD is found in approximately one-third of babies who have Down syndrome, but it also occurs as an isolated abnormality. If there is a defect in the septum, it is possible for blood to travel from the left side of the heart to the right side of the heart, or the other way around. Since the right side of the heart contains venous blood with a low oxygen content, and the left side of the heart contains arterial blood with a high oxygen content, it is beneficial to prevent any communication between the two sides of the heart and prevent the blood from the two sides of the heart from mixing with each other.

Atrioventricular Septal Defect Atrioventricular septal defect (AVSD) or atrioventricular canal defect (AVCD), previously known as "common atrioventricular canal" (CAVC) or "endocardial cushion defect", is characterized by a deficiency of the atrioventricular septum of the heart. It is caused by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum. In the partial AVSD, there is a defect in the primum or inferior part of the atrial septum but no direct intraventricular communication (ostium primum defect). In the complete AVSD (CAVSD), there is a large ventricular component beneath either or both the superior or inferior bridging leaflets of the AV valve. The defect involves the whole area of the junction of the upper and lower chambers of the heart, i.e. where the atria join the ventricles. There is a large hole between the lower portion of the atria and the upper or `inlet' portion of the ventricles and this is associated with a significant abnormality of the valves separating the atria from the ventricles. The valves in effect become a common atrio-ventricular valve, and the severity of the defect depends largely on the supporting attachments of the valve to the ventricles and whether the valve allows dominant flow from the right atrium to right ventricle and from left atrium to left ventricle ("unbalanced" flow). The overall problems are similar to those of VSD but are more complicated. There is an increased flow of blood to the lungs through both the ventricular and atrial components of the defect. In addition, the abnormal atrio-ventricular valve invariably leaks, so that when the ventricles contract, blood flows not only forwards to the body and the lungs, but also backwards into the atria. The back-pressure effect on the atria causes congestion of blood in the left atrium in particular, and this in turn causes congestion in the veins draining the lungs. The effect on the baby is to worsen the heart failure that is associated with an isolated VSD and to hasten the onset of pulmonary hypertension. It should be

Aneurysm and Coarctation of the Aorta The arch of the aorta lies behind the manubrium sterni. A gross dilatation of the aorta (aneurysm) may show itself as a pulsatile swelling in the suprasternal notch. Coarctation of the aorta is a congenital narrowing of the aorta just proximal, opposite, or distal to the site of attachment of the ligamentum arteriosum. This condition is believed to result from an unusual quantity of ductus arteriosus muscle tissue in the wall of the aorta. When the ductus arteriosus contracts, the ductal muscle in the aortic wall also contracts, and the aortic lumen becomes narrowed. Later, when fibrosis takes place, the aortic wall also is involved, and permanent narrowing occurs. Clinically, the cardinal sign of aortic coarctation is absent or diminished pulses in the femoral arteries of both lower limbs. To compensate for the diminished volume of blood reaching the lower part of the body, an enormous collateral circulation develops, with dilatation of the internal thoracic, subclavian, and posterior intercostal arteries. The dilated intercostal arteries erode the lower borders of the ribs, producing characteristic notching, which is seen on radiographic examination. The condition should be treated surgically.

Transposition of Great Arteries Transposition of the great arteries (TGA) is the most common cyanotic congenital heart lesion that presents in neonates. The hallmark of transposition of the great arteries is ventriculoarterial discordance, in which the aorta arises from the morphologic right ventricle and the pulmonary artery arises from the morphologic left ventricle. Preexisting diabetes mellitus of an expectant mother is a risk factor that has been described for the fetus having TGV.[2] Additionally, the children of diabetic mothers are more likely to have aortic coarctation. Pulmonary Stenosis Pulmonic stenosis, also known as Pulmonary stenosis, is a dynamic or fixed obstruction to flow from the right ventricle of the heart to the pulmonary artery. It is usually first diagnosed in childhood. Pulmonic stenosis is usually due to isolated valvular obstruction (Pulmonary valve stenosis), but may be due to subvalvular or supravalvular (Stenosis of pulmonary artery) obstruction. It may occur in association with more complicated congenital heart disorders. When pulmonary stenosis (PS) is present, resistance to blood flow causes right ventricular hypertrophy. If right ventricular failure develops, right atrial pressure will increase, and this may result in reopening of the foramen ovale, shunting of unoxygenated blood into the left atrium, and systemic cyanosis. If PS is not severe, congestive heart failure occurs, and systemic venous engorgement will be noted. An associated defect such as a patent ductus arteriosus partially compensates for the obstruction by shunting blood from the aorta to the pulmonary artery and into the lungs. The treatment of choice is percutaneous balloon valvuloplasty and is done when a resting peak gradient is seen to be >60mm Hg or a mean >40mm Hg is observed. Dextro-Transposition of the great arteries In dextro-Transposition of the great arteries (dextro-TGA) deoxygenated blood from the right heart is pumped immediately through the aorta and circulated to the body and the heart itself, bypassing the lungs altogether, while the left heart pumps red blood continuously back into the lungs through the pulmonary artery. In effect, two separate "circular" (parallel) circulatory systems are created. It is called a cyanotic congenital heart defect (CHD) because the newborn infant turns blue from lack of oxygen. Levo-Transposition of the great arteries Levo-Transposition of the great arteries is an acyanotic heart defect in which the primary arteries are transposed, with the aorta anterior and to the left of the pulmonary artery, and the morphological left and right ventricles are also transposed. In many cases, TGV is accompanied by other heart defects, the most common type being intracardiac shunts such as atrial septal defect (ASD) including patent foramen ovale (PFO), ventricular septal defect (VSD), and patent ductus arteriosus (PDA). Stenosis, or other defects, of valves and/or vessels may also be present. When no other heart defects are present it is called 'simple' TGV; when other defects are present it is called 'complex' TGV. Treatment For newborns with transposition, prostaglandins can be given to keep the ductus arteriosus open which allows mixing of the otherwise isolated pulmonary and systemic circuits. Thus oxygenated blood that recirculates back to the lungs can mix with blood that circulates throughout the body. Surgical correction is the definitive treatment for a transposition.

Tricuspid Atresia Tricuspid atresia is a form of congenital heart disease whereby there is a complete absence of the tricuspid valve. Therefore, there is an absence of right atrioventricular connection. This leads to a hypoplastic (undersized) or absent right ventricle. This defect is contracted during prenatal development, when the heart does not finish developing. It causes the heart to be unable to properly oxygenate the rest of the blood in the body. Because of this, the body does not have enough oxygen to live, and steps must be taken to keep the child alive. Because of the lack of an A-V connection, an atrial septal defect (ASD) must be present to maintain blood flow. Also, since there is a lack of a right ventricle there must be a way to pump blood into the pulmonary arteries, and this is accomplished by a ventricular septal defect (VSD). Blood is mixed in the left atrium. Because the only way the pulmonary circulation receives blood is through the VSD, a patent ductus arteriosus usually also persists to increase pulmonary flow.

Truncus Arteriosus (Persistent) Persistent truncus arteriosus (or Truncus arteriosus), also known as Common arterial trunk, is a rare form of congenital heart disease that presents at birth. In this condition, the embryological structure known as the truncus arteriosus fails to properly divide into the pulmonary trunk and aorta. Anatomical Changes single artery arising from the two ventricles which gives rise to both the aortic and pulmonary vessels abnormal truncal valve right sided aortic arch in about 30% of cases (not shown) large ventricular septal defect pulmonary hypertension complete mixing occurring at level of the great vessel right-to-left shunting of blood

Clinical Manifestations Cyanosis presents at birth Heart failure may occur within weeks Systolic ejection murmur is heard at the left sternal border Widened pulse pressure Bounding arterial pulses Loud second heart sound Biventricular hypertrophy Cardiomegaly Increased pulmonary vascularity Hypocalcemia (if associated with DiGeorge syndrome)

Total Anomalous Pulmonary Venous Return Total anomalous pulmonary venous connection (TAPVC), also known as total anomalous pulmonary venous drainage (TAPVD) and total anomalous pulmonary venous return (TAPVR), is a rare cyanotic congenital heart defect (CHD) in which all four pulmonary veins are malpositioned and make anomalous connections to the systemic venous circulation.(Normally, pulmonary venous return carries

oxygenated blood from the lungs to the left atrium where it can then be pumped to the rest of the body). A patent foramen ovale or an atrial septal defect must be present, or else the condition is fatal due to a lack of systemic blood flow.

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The aorta originates from the right ventricle rather than the left, or it overrides a hole in the septum, as shown in Figure 235, receiving blood from both ventricles. The pulmonary artery is stenosed, so much lower than normal amounts of blood pass from the right ventricle into the lungs; instead, most of the blood passes directly into the aorta, thus bypassing the lungs. Blood from the left ventricle flows either through a ventricular septal hole into the right ventricle and then into the aorta or directly into the aorta that overrides this hole. Because the right side of the heart must pump large quantities of blood against the high pressure in the aorta, its musculature is highly developed, causing an enlarged right ventricle.

It is readily apparent that the major physiological difficulty caused by tetralogy of Fallot is the shunting of blood past the lungs without its becoming oxygenated. As much as 75 percent of the venous blood returning to the heart passes directly from the right ventricle into the aorta without becoming oxygenated. A diagnosis of tetralogy of Fallot is usually based on (1) the fact that the baby's skin is cyanotic (blue); (2) measurement of high systolic pressure in the right ventricle, recorded through a catheter; (3) characteristic changes in the radiological silhouette of the heart, showing an enlarged right ventricle; and (4) angiograms (x-ray pictures) showing abnormal blood flow through the interventricular septal hole and into the overriding aorta, but much less flow through the stenosed pulmonary artery. Surgical Treatment Tetralogy of Fallot can usually be treated successfully by surgery. The usual operation is to open the pulmonary stenosis, close the septal defect, and reconstruct the flow pathway into the aorta. When surgery is successful, the average life expectancy increases from only 3 to 4 years to 50 or more years.

Tetralogy of Fallot Normally, the bulbus cordis becomes divided into the aorta and pulmonary trunk by the formation of the spiral aorticopulmonary septum. This septum is formed by the fusion of the bulbar ridges. If the bulbar ridges fail to fuse correctly, unequal division of the bulbus cordis may occur, with consequent narrowing of the pulmonary trunk resulting in interference with the right ventricular outflow. This congenital anomaly is responsible for about 9% of all congenital heart disease (Fig. 3-38). The anatomic abnormalities include large ventricular septal defect; stenosis of the pulmonary trunk, which can occur at the infundibulum of the right ventricle or at the pulmonary valve; exit of the aorta immediately above the ventricular septal defect (instead of from the left ventricular cavity only); and severe hypertrophy of the right ventricle, because of the high blood pressure in the right ventricle. The defects cause congenital cyanosis and considerably limit activity; patients with severe untreated abnormalities die. Once the diagnosis has been made, most children can be successfully treated surgically. Most children find that assuming the squatting position after physical activity relieves their breathlessness. This happens because squatting reduces the venous return by compressing the abdominal veins and increasing the systemic arterial resistance by kinking the femoral and popliteal arteries in the legs; both these mechanisms tend to decrease the right to left shunt through the ventricular septal defect and improve the pulmonary circulation. (Guyton) Tetralogy of Fallot is the most common cause of "blue baby." Most of the blood bypasses the lungs, so the aortic blood is mainly unoxygenated venous blood. In this condition, four abnormalities of the heart occur simultaneously:

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