Bedside Diagnosis of Congenital Malformations of the Heart

Bedside Diagnosis of Congenital Malformations of the Heart* From (1.) the Cardiophysiology Department of the Cook County Children's Hospital and Hektoen Institute for Medical Research, (2) The Department of Pediatrics of the Presbyterian-St. Luke's Hospital, and (3) the Department of Pediatrics of the University of Illinois College of Medicine, Chicago, Illinois

BENJAMIN M. GASUL, M.D., F.A.C.P. Director, Pediatric Cardiophysiology Department (1); Attending Physician (Cardiology) (2); Clinical Professor of Pediatrics (3)

RENE A. ARCILLA, M.D. Assistant Director, Pediatric Cardiophysiology Department (1); Clinical Assistant Professor of Pediatrics (Cardiology) (3)

MAGNUS H. AGUSTSSON, M.D. Research Associate, Pediatric Cardiophysiology Department (1); Clinical Assistant Professor of Pediatrics (Cardiology) (3)

WE PROPOSE to discuss in this paper the value and limitations of the clinical diagnosis of the common forms of congenital malformations of the heart based only on the history and the physical findings. The overwhelming majority of these cases can be correctly diagnosed in the office, and in a recent paperl we presented the actual data on the accuracy of the diagnoses of congenital malformations of the heart based not only on the history and physical examination but also on the roentgen ray and electrocardiographic findings. One often gets an erroneous impression of the reliability of clinical diagnosis because only the rare and complicated cases are reported in the literature. Of the many congenital malformations of the heart, the following ten

* Aided in part by grants from the Chicago Heart Association and National Institute of Health, U. S. Public Health Service (Grant No. H-3518).

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entities account for approximately 80 to 90 per cent of all cases. The noncyanotic entitics are: ventricular septal defect, atrial septal defect, patent ductus arteriosus, pulmonary stenosis with intact ventricular septum, aortic stenosis and coarctation of the aorta. The cyanotic entities are: tetralogy of Fallot, complete transposition of the great vessels, tricuspid atresia, and pulmonary stenosis with intact ventricular septum and right-to-left shunt at the atrial level. We believe that the correct diagnosis can be established in the vast majority of these entities by the bedside examination alone. Before discussing the salient points in the bedside diagnosis of these malformations, we wish to emphasize the following: A 8ina que non for a proper examination is a quiet, well-illuminated room. The patient must be relaxed and cooperative. Blood pressure readings may be very misleading and many significant heart sounds, clicks and murmurs are often missed or misinterpreted if the patient is unruly and restless. We, therefore, find it necessary at times to sedate some infants and young children with Nembutal or Seconal using 6 mg. (0.1 grain) per pound of body weight dissolved in 3 to 5 cc. of water and administered rectally. We very seldom give more than 0.12 gm. (2 grains). The parents are informed that the patient will be asleep within 10 to 20 minutes, and will usually wake up at about the time the examination is completed. What a pleasure it is then to accurately obtain the patient's blood pressures, and perform palpation, percussion and auscultation and take roentgen rays and electrocardiograms. The normal heart sounds can then be carefully analyzed and the presence or absence of clicks, snaps, rubs and of various murmurs noted and recorded. Sedation of these patients in the office has saved many a patient from unnecessary hospitalization and from the performance of additional complicated tests. VENTRICULAR SEPTAL DEFECT

In our experience, this is the most common type of congenital malformation of the heart. The manifestations of this anomaly vary considerably from a complete lack of symptoms in persons who lead a normal long life, to evidences of congestive heart failure early in infancy. The clinical and laboratory tests including angiocardiography and cardiac catheterization, combined with findings at surgery and at autopsy, have established the fact that the size of the defect is the predominant factor that determines the protean manifestations of this anomaly. For clinical purposes it is sufficient to divide this malformation into the following groups: 1. The mild group: Represented by patients with small defects, small left-to-right shunts and normal or slightly elevated right ventricular and pulmonary arterial pressures (approximately under 40 per cent of the systemic pressure).

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2. The moderately severe and the severe groups: Represented by patients with moderate to large sized defects, with larger left-to-right shunts and either moderately elevated pulmonary pressures (up to 70 to 75 per cent of the systemic pressure) or near systemic (over 75 per cent of the systemic pressure) pulmonary arterial pressures. 3. The very severe group-the so-called Eisenmenger complex: Represented by patients with large defects, equilibrated systemic and pulmonary arterial pressures and about equal bidirectional shunts or predominant right-to-left shunts with pulmonary resistances as high or higher than the systemic resistance.

The Mild Group These patients present the mild, benign form of this anomaly and the term "maladie de Roger" has been applied to them. In our experience, this group represents the majority of all of our patients with ventricular septal defects. They are asymptomatic and physical examination reveals no cardiac enlargements. SI and S2 are normal and S3 mayor may not be heard. The only abnormal finding is a harsh, high-pitched, grade 4/6 to 5/6 pansystolic murmur of maximum intensity in the third and fourth left intercostal spaces and usually accompanied by a systolic thrill in the same location (Fig. 1). It is often widely transmitted over the precordium and it is then almost always heard better over the fifth left intercostal space than over the first. Rarely, this murmur may not be pansystolic, lasting only during the first one-half or two-thirds of systole and of much lower intensity, grade 2/6 to 3/6. It is blowing, "puffy" in character, localized to the third and fourth left intercostal spaces and is not associated with a systolic thrill. The defect in these patients is often located in the lower muscular portion of the septum. In a number of instances this murmur and/or the above-described pansystolic murmur gradually diminish in intensity and duration and at times completely disappear during infancy or early childhood. The location of this "puffy" murmur is most helpful in differentiating it from other systolic murmurs, particularly those of mild pulmonary stenosis, and from the innocent murmurs. Amyl nitrite is a useful, simple, bedside test that helps differentiate these murmurs. Immediately upon inhalation of amyl nitrite this puffy murmur often becomes softer and shorter (Fig. 2), while the ejection systolic murmurs usually become harsher and do not shorten. Phenylephrine has just the opposite effect on this murmur of ventricular septal defect in that it intensifies and may prolong it. However, phenylephrine must be given intravenously, while all one needs to do with the amyl nitrite is to break it and let the patient inhale its vapor. There is no proof at present that patients belonging to this group develop high pulmonary arterial pressures and/or resistances, and that

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Fig. 1. Phonocardiograms in ventricular septal defect. Upper tracing: Boy, 3 years, pulmonary artery pressures 20/8 mm. Hg, pulmonary blood flow 8.8 L./min./M.2, systemic flow 4.8 L./min./M.2 Note loud pansystolic murmur (SM) over 4th left interspace and absence of a diastolic murmur. Middle tracing: Girl, 3 years, pulmonary artery pressure 77/35 mm. Hg, pulmonary flow 15.5 L./min./M.2, systemic flow 5.9 L./min./M.2 Note prominent diastolic murmur (DM) preceded by a loud third sound (Sa). The diastolic murmur is louder than the systolic murmur (SM). Lower tracing: Girl, 12 years, pulmonary artery pressure 115/70 mm. Hg, femoral artery pressure 120/70 mm. Hg, right-to-Ieft shunt 2.4 L./min./M.2, left-to-right shunt 1 L./min./M.2 Note very short and faint systolic murmur (SM), pulmonary ejection systolic click (ESC), loud and single second sound (S2), and faint diastolic murmur due to pulmonary insufficiency.

their normal span of life is shortened because of these complications. It is very difficult for us to believe that these complications ever develop in these patients. While bacterial endocarditis is very rare during infancy and childhood, some patients do develop this complication in later life. With proper early medical therapy, bacterial endocarditis can nowadays be successfully controlled.

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Fig. 2. Phonocardiograms of a 2 year old boy with small muscular defect in the ventricular septum. Upper tracing shows a short systolic murmur (8M) in the 4th left interspace which disappears in the later third of systole. Lower tracing reveals almost complete disappearance of the murmur and diminished intensity of second sound (8 2) following amyl nitrite inhalation.

The Moderately Severe and Severe Groups

We have included in this group patients with moderately elevated right ventricular and pulmonary artery pressures as well as those with near systemic right ventricular and pulmonary artery pressures because one cannot always differentiate these two subgroups on clinical grounds alone. However, in spite of much overlapping in their manifestations, we consider it best to present the salient findings in each subgroup separately. 1. Patients with moderately elevated right ventricular and pulmonary artery pressures (less than 75 per cent of the systemic pressure) will often give a history of frequent respiratory infections in infancy and early childhood with some moderate retardation in growth and weight. After the first or second year of life and throughout the pediatric age, the overwhelming majority of these patients do very well and are relatively asymptomatic. Serial catheterization studies have shown a fall of pulmonary arterial pressures in many, at least during their first decade of life, and either a fall or no significant rise in their pulmonary vascular resistances. On physical examination, the cardiac apex is hyperdynamic and is displaced downward and to the left of the midclavicular line, and a lower parasternal lift due to right ventricular hypertrophy may also be present. SI is normal or somewhat intensified and the pulmonary component of S2 is often accentuated. Ss is present and is followed by a

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short, low-pitched, middiastolic rumble at or inside the apex. The pansystolic murmur has the same characteristics as in the mild group except that it is often more widely transmitted and a systolic thrill is almost always present. 2. Infants with marked right ventricular and pulmonary artery pressures (over 75 per cent of the systemic pressure) have very frequent respiratory infections, with bouts of bronchopneumonia and marked retardation of their physical development. They are dyspneic even at rest. Physical examination reveals an undernourished, tachypneic noncyanotic infant. Cyanosis may, however, appear during bouts of bronchopneumonia or with excessive crying. There is marked cardiac enlargement and a precordial bulge. Left ventricular hypertrophy is evidenced by the marked downward and outward displacement of the hyperdynamic cardiac apex, and right ventricular hypertrophy by the lower parasternal lift. SI is loud and the pulmonary component of 8 2 is very much accentuated. Sa is present and is usually followed by a low pitched mid-diastolic rumble at or inside the apex. The systolic murmur is usually still pansystolic, although in some patients with about equivalent systemic and pulmonary artery pressures, this murmur occupies the initial one-half to two-thirds of systole and is of somewhat lower pitch and lower intensity (Fig. 1). A systolic thrill is usually present. Evidences of congestive heart failure such as marked tachycardia, tachypnea, a large, firm liver and, rarely, facial edema or even edema of the buttocks and of the lower extremities are frequently present during the first year or so of life-the first six months being the most critical. In our experience, the overwhelming majority of all infants over six months of age survive following proper medical treatment with oxygen, antibiotics, mercurials and digitalis. Follow-up studies show great improvement in the general status of these patients after the first year or two of life and the heart size often decreases. Serial recatheterization studies have demonstrated that the overwhelming majority of them do not develop pulmonary resistance high enough to result in a predominant right-to-Ieft shunt, at least during the first decade of life. However, in spite of the apparent improvement in their clinical status, their growth and weight are definitely retarded and their exercise tolerance is diminished. Unless the defect is surgically closed, a number of these patients later in life develop a predominant right-ta-left shunt and cyanosis with irreversible changes in their pulmonary arterioles. The Very Severe Group-The Eisenmenger Complex

These are represented by patients with large defects, equilibrated systemic and pulmonary artery pressures, predominant right-to-Ieft shunts and very high pulmonary resistances. These patients, the vast majority of whom are past the pediatric age

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period, are cyanotic especially after exercise and often have some clubbing of the fingers and toes. Hemoptysis may be present in older patients. Fatigability and exercise intolerance are evident. Physical examination usually reveals a precordial bulge, no definite cardiac enlargement and a marked lower parasternal lift due to right ventricular hypertrophy. There is a distinct diastolic tap felt over the pulmonary area due to forceful closing of the pulmonary valves. A systolic thrill is often absent. SI is normal and 8 2 is very loud and appears single or very closely split. An early, high-pitched systolic click is heard over most of the left precordium. It is maximal over the second and third left intercostal spaces and is due to the high pressure in the dilated pulmonary artery. The murmur is not pansystolic; it is present in early systole, is of grade 2/6 to 3/6 intensity and is localized to the third and fourth left intercostal spaces. A high-pitched, early decrescendo, diastolic murmur due to pulmonary regurgitation is often present over the second and third left intercostal spaces (Fig. 1). The low-pitched mid-diastolic rumble so commonly heard in patients of the preceding group is absent because there is no overloading of the left ventricle. There is no specific medical treatment and surgery is contraindicated in these patients. Death is usually due to congestive heart failure. It is surprising, however, how many years some of these patients may survive even after the onset of the above described symptoms and signs. Although, without doubt, some patients with marked pulmonary hypertension early in life develop the findings of this group of patients at a later age, there is a probability that, at least in some of them, the principal cause of the hypertension is not the ventricular septal defect but some unknown congenital factor that results in persistence of the fetal state of the pulmonary vascular bed, leading to progressive and finally irreversible changes in the media and intima of the pulmonary arterioles. Except for the presence of a ventricular septal defect, these patients then present the same clinical, hemodynamic and anatomic findings as patients with the so-called primary pulmonary hypertension. For example, recently a young child three years of age with severe pulmonary hypertension, high pulmonary resistance and some right-toleft shunt at the ventricular level expired following surgery and autopsy revealed a ventricular septal defect 1 cm. in diameter in the muscular septum. It is possible that this was a case of primary pulmonary hypertension with a hemodynamically insignificant ventricular septal defect. It is important to emphasize that physical findings alone, even when correlated with roentgenologic and electrocardiographic studies, usually cannot establish the correct diagnosis in this group of patients. Selective angiocardiography, retrograde aortography and, at times, cardiac catheterization are necessary to differentiate this form of ventricular septal defect from primary pulmonary hypertension, atrial septal defect with right-to-left shunt, patent ductus arteriosus and aortic septal defect

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with reversed flow, some forms of truncus arteriosus, double outlet right ventricle, some types of single ventricle, and some rare forms of transposition complexes. ATRIAL SEPTAL DEFECTS

Depending upon the location of the defect or defects, atrial septal defects are divided into: (1) foramen ovale defects, (2) ostium primum defects, (3) persistent ostium secundum or sinus venosus defects (4) common atrioventricular canal defects and (5) single atrium defects. Foramen Ovale Defects This is by far the most common type and is, at times, still given the misnomer of "ostium secundum defect." This defect is due primarily to maldevelopment of the septum primum and not of the septum secundum. The average patient is asymptomatic throughout childhood and adolescence. Many adults may also be free of symptoms if the defect is comparatively small. With very large defects, respiratory infections and exertional dyspnea appear early in life. Physical examination reveals a noncyanotic patient with a heart that is usually within normal limits if the shunt is small; if the shunt is large, the cardiac apex is displaced downward and outward and presents a hyperdynamic impulse which is commonly seen in patients with left ventricular hypertrophy. In this case, however, it is due to marked clockwise rotation of the dilated and hypertrophied right ventricle. SI is normal or somewhat accentuated, and S2 is widely and constantly split. This fixed splitting that does not change with inspiration or expiration or with change in position of the patient is the most characteristic auscultatory finding in these patients (Fig. 3). Sa is present if the shunt is large. There is a soft systolic ejection

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Fig. 3. Phonocardiogram of 7 year old boy with atrial septal defect. Note constant splitting of second sound which does not vary appreciably with respiration and the ejection systolic murmur (SM) over the pulmonary area. A = aortic closure sound; P = pulmonic closure sound.

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murmur of grade 2/6 to 3/6 intensity localized to the pulmonary area. A thrill is seldom felt over this area. This murmur is due to increased blood flow and velocity into the dilated pulmonary artery. A middiastolic rumble at or inside the apex due to the torrential blood flow across the tricuspid valve is often heard. If the shunt is very large, an early, soft, diastolic murmur is heard at the tricuspid area and over the lower sternum. In the presence of pulmonary hypertension-a very rare occurrence in children-82 is palpable, loud and is either single or closely split. We seldom hear an early systolic click over the pulmonary area in children; it is often present in patients with pulmonary hypertension. An early decrescendo murmur of pulmonary regurgitation localized at the second and third left intercostal spaces may be present in adults. Arryhthmias, especially auricular premature beats and fibrillation, and congestive heart failure may be seen in older patients, usually in the third, fourth or fifth decades. Cyanosis due to marked pulmonary hypertension and reversal of the shunt (at the atrial level) is rare even in these patients. Ostium Primum Defects

Ostium primum defects are large, low lying and are associated with a cleft anterior mitral valve or occasionally with a malformed tricuspid

Fig. 4. Phonocardiogram of 10 year old girl with ostium primum defect. Note highpitched pansystolic murmur (CM) at apex and coarser ejection systolic murmur at the pulmonic area. Also note constant splitting of the second sound. S1 = first heart sound; A = aortic closure sound; P = pulmonic closure sound.

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valve. The history and physical findings are those described under the foramen ovale defects with large left-to-right shunts. Frequent respiratory infections, poor weight gain, fatigability and exertional dyspnea are more common than in patients with the foramen ovale type. Physical examination may reveal a precordial bulge with the cardiac apex displaced downward and outward and a lower parasternal lift is usually present. The auscultatory findings are those described under foramen ovale type with large left-to-right shunts. In addition, a pansystolic murmur of mitral regurgitation may be present at the apex and transmitted into the left axilla (Fig. 4). If this pansystolic murmur is absent, physical examination cannot differentiate this type from the foramen ovale type. However, the electrocardiogram and especially the vectorcardiogram is most helpful in differentiating these two types. In the foramen ovale type, right axis deviation in the standard leads and "incomplete right bundle branch block" in the right precordial leads are present, while patients with the ostium primum type reveal left axis deviation in the standard leads in addition to the "incomplete right bundle branch block pattern" in the precordial tracings. Persistent Ostium Secundum (Sinus Venosus) Defects

The persistence of the embryologic ostium secundum is often associated with partial anomalous connection of the right upper pulmonary veins into the superior vena cava. The clinical findings are indistinguishable from the common fOI·amen ovale types. This defect is rare and our experience is limited to six cases. Although roentgenology and tomography may visualize the anomalous right pulmonary veins, angiocardiography and cardiac catheterization are necessary to differentiate this form from the foramen ovale type. Since the prognosis and treatment of this form is the same in both types, the differentiation is of no great clinical importance. Common Atrioventricular Canal

In addition to the presence of a large, low lying, atrial septal defect and malformation of the mitral and tricuspid valves (which form a common atrioventricular canal), a ventricular septal defect also forms a part of this malformation. Very rarely, pulmonary stenosis is present. This is the most serious type of atrial septal defects, and most patients die during the first year of life or in early childhood. Although this malformation is often found in Mongolian idiots, the majority of our patients with it are not Mongolian idiots. Repeated respiratory infections, marked feeding difficulties with marked retardation in physical development, and bouts of bronchopneumonia are very common. Physical examination reveals an undernourished, tachypneic infant who may be mildly cyanotic, especially after crying or during a respiratory infection, and whose liver is often enlarged. The heart is moderately or

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greatly enlarged, and a definite lower parasternal life is present as a sign of right ventricular hypertrophy. 81 is usually normal. 8 2 is loud and split. 8 3 is present and is followed by a short mid-diastolic rumble at or inside the apex. A grade 3/6 to 4/6 pansystolic murmur is usually present, maximally at the third and fourth left intercostal spaces, and it is usually widely transmitted downward and to the left. The ventricular septal defect as well as mitral and/or tricuspid regurgitations contribute to the origin of this murmur. If the ventricuhr septal defect is very large, the systolic murmur over the third and fourth left interspaces is not pansystolic and may even he absent over this area. It is comparatively easy to differentiate this type from ostium primum or foramen ovale types in the presence of the loud pansystolic murmur. If this murmur is absent, only selective angiocardiography will distinguish it from ostium primum defects. In the presence of a pansystolic murmur, clinical differentiation from some types of large ventricular septal defects, or ventricular septal defects associated with atrial septal defects may be impossible, and electrocardiography, cardiac catheterization and selective angiocardiography are necessary to establish this diagnosis. Single Atrium (Cor Trilocular Biventriculare)

This comparatively rare form cannot be differentiated on clinical grounds from ostium primum or common atrioventricular canal types. Our experience is limited to six cases. Cardiac catheterization and selective angiocardiography are necessary for the differential diagnosis. PATENT DUCTUS ARTERIOSUS

Patients with this anomaly may be divided into the following groups: 1. lYlild cases: With small or moderate left-to-right shunts, and normal or mild elevation of pulmonary arterial pressures (up to 40 per cent of systemic pressures). 2. Moderately severe and severe cases: With large left-to-right shunts and moderate to marked elevation of pulmonary arterial pressure without significant rise in pulmonary vascular resistance (from 40 up to 100 per cent of systemic pressures.) 3. Very severe cases: Marked elevation of pulmonary arterial pressure equivalent to or higher than systemic pressures and high pulmonary vascular resistance equal to or greater than the systemic resistance.

Mild Cases This is by far the most common and important group, since it embraces approximately 90 per cent of all patients with patent ductus arteriosus. The overwhelming majority of these patients are asymptomatic during childhood, often even in later adult life. If the left-to-right shunt through the ductus is fairly large, insufficient weight gain, fatig-

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PATENT DUCTUS ARTERIOSUS

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Fig. 5. Phonocardiograms in patent ductus arteriosus. Upper tracing: Typical machinery-like continuous murmur in an 11 year old girl with pulmonary artery pressure of 26/12 mm. Hg, pulmonary blood flow 11.2 L./min./M.' and systemic flow 4.7 L./min./M.' Note peak of murmur in late systole and early diastole. Middle tracing: Atypical murmur of a 1Yz year old boy with pulmonary artery pressure of 100/50 mm. Hg, aortic pressure of 140/50 mm. Hg, pulmonary flow 13 L./min./M.', and systemic flow 2.9 L./min. M.' Note crescendo systolic murmur (CM) which continues up to the second sound (S,) and note absence of a diastolic murmur. Lower tracing: Girl 17 years, pulmonary artery pressure 155/75 mm. Hg, aortic pressure 105/75 mm. Hg, and right-to-Ieft shunt of 1.0 L./min./M.2 Note pulmonic ejection systolic click (ESC), diastolic murmur (DM) due to pulmonary insufficiency, and absence of a systolic murmur. S. = first heart sound; A = aortic closure sound; P = pulmonic closure sound.

ability, and mild dyspnea on marked exertion may be present. The presence or absenee of cardiac enlargement depends upon the size of the shunt through the ductus. If the shunt is small, the heart is not enlarged and the blood pressure is normal. If the shunt is larger, the left ventricle is enlarged as evidenced by a hyperdynamic cardiac apex which may be displaced some~hat downward and outward and there is often a high pulse pressure. 8 1 is usually normal and 82 is often masked by the

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murmur. 8 3 may be followed by a short, low-pitched mid-diastolic rumble at or inside the apex. The characteristic sign on physical examination is the continuous, machinery-like systolic and diastolic murmur heard best over the pulmonary area and often associated with a thrill, the systolic portion of which may be felt over the suprasternal notch. This murmur starts usually a little after the first heart sound and reaches its peak toward the second sound with a gradual decrescendo towards the end of diastole (Fig. 5). In our experience, careful auscultation with the infant quiet and, if necessary, sedated, will bring out this continuous murmur in infants as young as six to eight weeks of age. The systolic component of this murmur is at times widely transmitted over the precordium. The two most important complications are bacterial endocarditis and arteritis, which are more common in adults than in children, and congestive heart failure which in this group does not occur in children and is uncommon even in later life. The continuous murmur of patent ductus arteriosus should be differentiated from a number of other continuous murmurs, the most common one being the venous hum. This is an innocent murmur accentuated in diastole and heard best on standing up or in the sitting position and during inspiration. It is most commonly present over the right supraclavicular regions and just below the clavicle. Very often it is bilateral and occasionally it may be heard best on the left side. It is easily abolished by turning the head, or better, by pressure on the neck veins. Differentiation from the murmur of an aortic septal defect may require retrograde aortography. The continuous murmurs of coronary arteriovenous fistula which usually presents a diastolic accentuation if the fistula opens into the right ventricle, of ruptured sinus of Valsalva, as well as the continuous murmurs of the recently described adult type of anomalous origin of the left coronary artery from the pulmonary artery are usually heard maximally over the lower precordial area, are more diffuse and more superficial. Retrograde aortography is the best means of differentiating these murmurs. Moderately Severe and Severe Cases

This group, much rarer than the previous one, is usually seen in infants or very young children. Frequent respiratory infections, cough, retarded physical development, easy fatigability and dyspnea even at rest are commonly present. Congestive heart failure with an enlarged liver is a serious but not too frequent occurrence in these infants. Physical examination reveals a noncyanotic, tachypneic infant with marked cardiac enlargement. The cardiac apex is displaced outward and downward and may reach the midaxillary line in the fifth or sixth left intercostal space. This enlargement is due to biventricular hypertrophy. We consider the presence of a high pulse pressure in most of these infants

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as a very helpful diagnostic sign. The characteristic finding is again the continuous systolic-diastolic murmur which is usually still present, although the diastolic component often ends in early diastole. If the patient is restless and the diastolic murmur cannot be heard (Fig. 5), the infant is sedated. In some cases, it is necessary to attempt to reduce the pulmonary arterial pressure by giving the patient 100 per cent oxygen by mask for several minutes, and/or a sYHtemic pressor agent such as mephelltermine sulfate (Wyamine) 10 to ;)0 mg. intramuseularly to bring out the diastolie murmur. These additional measures, easily performed at the bedside, greatly reduce the use of much more eomplieated diagnostic proeedures, such as retrograde aortography or eardiae eatheterization. However, if the diastolic component cannot be brought out and the patient's eondition is not improving, we do not hesitate to perform venous angiocardiography whieh very frequently reveals blanehing of the pulmonary artery (Goetz sign), and if this is unsatisfactory, retrograde aortography. It is most important to establish the eorreet diagnosis in these patients because surgery is mandatory and carnes little risk. Suceessful operation restores a normal eireulation. Very Severe Cases

Fortunately, this is the rarest group. "Primary" pulmonary hypertension with widespread irreversible changes in the media and intima of the pulmonary vaseular bed appears to be the essential lesion and is eertainly hemodynamieally more significant than the pateney of the ductus arteriosus. These patients have markedly diminished exercise tolerance, and, if cyanosis is not evident, it may appear after exercise. Careful inspeetion may reveal cyanosis of the toes and of the left fingers and no cyanosis of the fingers of the right hand. Further examination reveals no evidence of definite cardiac enlargement, although eardiae dullness may be inereased in the pulmonary area due to dilatation of the pulmonary artery. There is a marked lower parasternal lift due to right ventrieular hypertrophy and a palpable seeond sound at the pulmonary area. 8 1 is often followed by an early high-pitehed systolie eliek, maximally heard over the pulmonary area and widely transmitted over the left precordium. 8 2 is very loud and single or eloBely split. There is a grade 2/6 to 3/6 ejeetion type of systolic murmur over the pulmonary area and usually a high-pitched decrescendo early diastolic murmur over the same area due to pulmonary regurgitation (Fig. 5). If there is definite differential cyanosis of the toes and some cyanosis of the fingers of the left hand but no cyanosis of the fingers of the right hand, the diagnosis can be made by inspection. If this is not definite, retrograde aortography and cardiac catheterization must be performed to differentiate this entity from other conditions with marked right ventricular and pulmonary arterial hypertension without gross cardiac enlargement.

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These patients have a poor prognosis. The presence of an equal bidirectional shunt or of a predominant right-to-left shunt is a definite contraindication to surgery. Congestive heart failure is the most common cause of death. PULMONARY STENOSIS WITH INTACT VENTRICULAR SEPTUM WITH OR WITHOUT A RIGHT TO LEFT SHUNT AT THE ATRIAL LEVEL

The stenosis is valvular in the overwhelming majority of cases. Rarely, there is a localized stenosis in the infundibulum and, rarest of all, supravalvular stenosis. Pulmonary valvular stenosis may be divided into the following groups: Mild cases: The pressure in the right ventriele is below 50 mm. Hg or below 40 to 45 per cent of systemic pressure. Moderate cases: The pressure in the right ventricle is below 90-100 mm. Hg or below 75 per cent of systemic pressure. Severe cases: The pressure in the right ventricle is at systemic and often above the systemic level. Mild Pulmonary Stensosis

Patients are asymptomatic. Physical examination reveals no cardiae enlargement. 8 1 is normal and is frequently followed by an early, highpitched systolic click, heard best at the second or third left intercostal space. The splitting of 8 2 is wider than normal and the pulmonic component is either of normal intensity or even louder than normal. 'This splitting is not fixed and decreases during expiration. There is a rough, harsh, ejection systolic murmur maximal over the first and second left intercostal spaces and a systolic thrill in the same area. This murmur always ends before the aortic closure (Fig. 6). Moderate Pulmonary Stenosis

Patients are also asymptomatic and acyanotic, although exertiollal dyspnea after marked effort may occasionally be present. Because of the presence of some right ventricular hypertrophy, a lower parasternal lift can usually be felt. An early systolic click is present just as in the mild cases. 8 2 is diminished in intensity. A rough systolic thrill is present and may often be palpated over the suprasternal notch. The systolie murmur over the pulmonary area is harsh, grade 4/6 to 5/6, is longer but still does not obscure the aortic closure (Fig. 6). Severe Pulmonary Stenosis

These patients are symptomatic and many of them are cyanotic because of a right-to-left shunt through the foramen ovale. Marked jatigability and dyspnea are common, and evidences of heart failure with enlargement of the liver may be present. Physical examination reveals a cyanotic or non cyanotic patient who

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AGUSTSSON

PULMONARY STENOSIS

+t++f-t-ff

f++,+l fTi

Moderate

Severe

Fig. 6. Phonocardiograms in isolated pulmonary stenosis. Upper tracing: Girl, 10 years, right ventricular pressure 42 / 0 mm. Hg, pulmonary artery pressure 25/10. Note pulmonic ejection systolic click (ESC), diamond-shaped systolic murmur (SM) which terminates before aortic closure (A), well-split second sound and normal pulmonic closure sound (P). Middle tracing: Man, 22 years, right ventricular pressure 80/4 mm. Hg, pulmonary artery pressure 34/10 mm. Hg. Note diamond-shaped systolic murmur (SM), very wide splitting of the second sound, and faint pulmonic closure sound (P). Lower tracing: Woman, 26 years, right ventricular pressure 120/5 mm. Hg, pulmonary artery pressure 15 mm. Hg (mean). Note constant fourth heart sound (S4), late onset and peak of systolic murmur (SM), termination of murmur beyond the aortic closure sound (A) and absence of a demonstrable pulmonic closure Bound.

is often tachypneic. Prominent "a" waves due to forceful atrial contraction may be seen in the neck veins. Marked cardiac enlargement with the apex in the sixth intercostal space and in the midaxillary line is frequently noted and this is due to marked right atrial and right ventricular hypertrophy and dilatation. On a number of occasions, particularly in older children, the heart is not definitely enlarged to examination, even in the presence of right ventricular pressure higher than the systemic pressure. The right ventricle in these patients is markedly hypertrophied but not dilated. Many of these patients do not have the early systolic

Bedside Diagnosis of Congenital Malformations of the Heart

733

click because of the considerable rigidity of the pulmonary valves that greatly interfere with their movements. The splitting of S2 is wider than in any other form of congenital heart disease, and may be up to 0.12 or even 0.14 second. The pulmonary component of S2 is markedly diminished in intensity and, in exceptional cases, with the pressure in the right ventricle higher than in the left one. It is not heard at all, or even not recorded on the phonocardiogram. The severity of the pulmonary stenosis markedly prolongs the right ventricular ejection period, and the ejection systolic murmur here is longer and louder than in the less severe forms and it thus completely obscures the aortic closure sound over the area of the murmur (Fig. 6). A systolie thrill may be felt over the suprasternal notch. In very severe cases, an atrial sound with a presystolic accentuation is heard along the left sternal border and is probably explained by the presence of a higher systolic atrial pressure than diastolic pulmonary pressure, so that during atrial systole blood not only enters the right ventricle but also opens up the pulmonary valves. In the presence of congestive heart failure, the systolic ejection murmur becomes less intense and not as prolonged. In general, the greater the severity of the pulmonary stenosis and the higher the right ventricular pressure, the longer and louder is the systolic murmur which obscures the aortic closure, the wider is the splitting of 8 2, and the less frequent is the early systolic click. Proper auscultation and attention to these details sometimes makes the stethoscope in these cases superior to radiology or even electrocardiography. Isolated infundibular stenosis is rare and the only points that are of any help in the differential diagnosis from valvular stenosis are that in the former the murmur is maximal over the third and fourth left intercostal spaces and is not heard over the first one; the early systolic click is not present, and the poststenotic dilatation of the pulmonary artery so common in valvular stenosis is rare in infundibular stenosis. Supravalvular stenosis is still rarer and can be differentiated only by selective angiocardiography. The differential diagnosis includes many entities, the important ones being the innocent murmur, atrial septal defects, idiopathic dilatation of the pulmonary artery, coarctation of the branches of the pulmonary artery, patent ductus arteriosus with only a systolic murmur, Eisenmenger's complex and tetralogy of Fallot. With the exception of idiopathic dilatation of the pulmonary artery and coarctation of the branches of the pulmonary artery, the rest of the entities have been or will be discussed in this chapter. Idiopathic dilatation of the pulmonary artery has findings very similar to those of mild pulmonary stenosis. We used to believe that the splitting of 8 2 during expiration is not as wide and the intensity of 8{is not as marked as in mild pulmonary stenosis and that the thrill is usually not present in patients with idiopathic dilatation of the pulmonary artery.

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However, later experience gave us conflicting findings, and since clinically and even hemodynamically there is very little difference between these two entities, and furthermore, since neither condition requires any treatment, it is not too important to establish a definite differential diagnosis. Coarctation of the branches of the pulmonary artery results in a much wider transmission of the ejection systolic murmur to the axillae, all.d there is no early systolic click present. In our experience, a continuous murmur that has been described in these patients WaS not present in any of our patients with coarctation of the branches of the pulmonary artery unassociated with other malformations. AORTIC STENOSIS

The stenosis may be valvular, subvalvular or rarely supravalvular, and it is customary to divide these cases clinically into mild, moderate all.d severe.

Mild Aortic Stenosis The patients are asymptomatic and the abnormal auscultatory findings on physical examination are the only evidences of the presence of this malformation. The heart is not enlarged to percussion nor is there any evidence of left ventricular hypertrophy on palpation. SI is normal and is followed by an early, high-pitched systolic click heard maximally at the third and fourth left intercostal spaces. It is also heard at the aortic area but the systolic murmur in this area may interfere with its recognition. We believe that the click in these mild valvular cases, where the ascending aorta is not significantly dilated, is due primarily to the opening of the somewhat thickened aortic valves following closure of the mitral and tricuspid valves. S2 is normal and often accentuated and we believe that just as the opening of these valves produces an early systolic click, so may the closure of these thickened valves be accentuated. There is a fairly harsh, grade 3/6 ejection systolic murmur heard best at the aortic area and commonly, especially in infants and very young children, equally well at the left lower sternal border (Fig. 7). This murmur is well transmitted to the neck vessels. A thrill is present at the aortic and suprasternal areas. In our experience, follow-up studies for as long as 12 years have not revealed any evidence o(progression into the severe forms of stenosis. The presence of this distinct, early systolic click, which can be easily missed unless careful auscultation is performed with the diaphragm type of stethoscope, has helped us greatly to differentiate these murmurs fromthe diffuse, innocent, so-called Still's murmur. Moderate Aortic Stenosis

These patients are usually also asymptomatic, but physical examination reveals a forceful apical impulse which may be displaced slightly

Bedside Diagnosis of Congenital Malformations of the Heart

735

AORTIC STENOSIS

CAROTID TRACING

ECG

B. Severe Fig. 7. Phonocardiograms in congenital isolated aortic stenosis. Upper tracing: Boy, 11 years, left ventricular pressure 125/0 I1lm. Hg, aortic pressure 105/70 mm. Hg. Note loud aortic ejection systolic click (ESC), short diamond-~haped systolic murmur (SM) and normal aortic closure sound (A). Lower tracing: Woman, 31 years, left ventricular pressure 230/15 mm. Hg, aortic pressure 125/70. Note absence of ejection systolic click, loud and long diamond-shaped murmur (SM), and faint aortic closure sound (A).

downward and to the left of the normal cardiac border. The early systolic click is usually still present but 8 2 is often of decreased intensity. The ejection systolic murmur has the flame distribution as in the mild cases but appears somewhat harsher and longer. An early diastolic, high-pitched, crescendo-decrescendo murmur is at times heard at the third and fourth left intercostal spaces best in expiration and on sitting up and is due to associated mild aortic regurgitation. Severe Aortic Stenosis

Fatigability, dyspnea, and angina, especially on exertion, are frequently present. Syncope and sudden death may occasionally occur. Pulsus parvus et tardus with a narrow pulse pressure may be present. The heart is enlarged due to left ventricular hypertrophy and dilatation. A systolic thrill is felt at the aortic area and suprasternal notch. The early systolic click is not heard because the marked stenosis of the valves interferes greatly with their forward movements in systole. The systolic ejection murmur is loud and longer than in the mild or moderate cases but it stops before the greatly diminished and delayed aortic closure

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(A2) (Fig. 7). In the presence of heart failure, this murmur diminishes markedly in intensity and duration. Very severe cases with marked prolongation of left ventricular systole give rise to paradoxical splitting of the second sound. Aortic closure then occurs after pulmonic closure during expiration because the pulmonary valves, not being affected in this anomaly, behave normally and close earlier in expiration than in inspiration. Physical examination even when correlated with roentgenologic and electrocardiographic findings cannot differentiate the valvular, subvalvular and supra valvular types from one another even though the early systolic click is more common in the valvular type. Retrograde left heart catheterization and/or selective left ventriculography with continuous pressure recordings of the pull-back from the left ventricle to the aorta are necessary for their differentiation. However, the medical and surgical management of these patients does not depend upon the location of the stenosis, but upon the severity of the obstruction and therefore upon the severity of the presenting symptoms and clinical findings. If a decision for surgical intervention is made, the experienced surgeon is prepared to perform the indicated operation for any of these types-a procedure which at present is not wholly satisfactory, but which is being constantly and remarkably improved. The recently described muscular hypertrophic subaortic stenosis, which is sometimes familial, presents certain findings that allows the clinician to strongly suspect the correct diagnosis. This malformation is in reality a "physiologic" systolic stenosis of the left ventricle due to marked muscular hypertrophy of its outflow tract. These patients have no thrill in the aorta or suprasternal areas, and the systolic ejection murmur is maximal at the left lower sternal border. A characteristic, distinctive brachial pulse contour has recently been described for this entity. Selective left ventriculography is necessary to establish this diagnosis. COARCTATION OF THE AORTA (POSTDUCTAL AND PREDUCTAL TYPES)

There is a great deal of controversy in the literature regarding the use and the significance of the terms "infantile" and "adult" types of coarctation and the following preliminary remarks appear to us to be appropriate. Although the degree and extent of the coarctation (constriction) of the aorta, and the presence or absence of associated lesions are important factors in this malformation, the location of the coarctation in its relation to the point of entrance of the ductus arteriosus and the patency or closure of the ductus are the primary factors that determine the clinical and laboratory findings, the prognosis and treatment of these patients. In the postductal "adult" type, the coarctation is below or at the point of entrance of the ductus arteriosus, while in the preductal "infantile" type, the coarctation is above this point. The fetal circulation is little

Bedside Diagnosis of Congenital Malformations of the Heart

737

interfered with in the "infantile" type, since most of the blood from the right ventricle and pulmonary artery enters the descending aorta distal to the coarctation, and the major part of the blood from the left ventricle enters the ascending aorta. There then is little stimulus to the development of collateral circulation during fetal life and at birth most of these infants develop evidences of predominantly right but also left heart failure and expire shortly afterward. If the infant survives and the ductus arteriosus does not close, right and left ventricular hypertrophy persists. If the ductus closes and there is no adequate collateral circulation, the patient usually dies in left heart failure. In rare cases in which the ductus arteriosus closes and the patient survives, sufficient collateral circulation apparently develops and the clinical and hemodynamic findings are then those of the postductal types. In the postductal type the fetal blood from the right ventricle and from the pulmonary artery can reach the descending aorta through the ductus arteriosus only after its passage through the constricted area and the fetus must thus develop adequate collateral circulation in order to survive. Some of these infants, especially in the presence of severe coarctation, develop evidence of congestive heart failure early in life. If these infants survive, only left ventricular hypertrophy is present. Although ventricular septal defects and patency of the ductus arteriosus are occasionally present in the postductal type, ventricular septal defects are more common in the preductal type, and patency of the ductus is so regularly seen in the latter that this additional lesion can usually be considered an integral part of the "infantile" type. The presence of additional serious malformations such as complete transposition of the great vessels or atresia of the mitral or of the aortic valves changes the clinical and hemodynamic picture to such an extent that coarctation of the aorta should no longer be considered as the essential anomaly and we prefer to discuss these cases under such titles as "complete transposition of the great vessels with coarctation of the aorta," "mitral atresia with coarctation of the aorta," etc. For purposes of discussion, postductal coarctation ("adult" type) may be subdivided into: (a) those cases which are asymptomatic in childhood and usually in early adulthood and which constitute the majority of all these cases, and (b) those showing definite symptoms and even heart failure in infancy. Preductal coarctation ("infantile" type) is subdivided into (a) those cases manifested by severe heart failure ending fatally in the neonatal period and which constitute the majority of this type, (b) those with survival into childhood or even early adulthood with the ductus remaining patent, and (c) those with survival after the ductus closes. Postductal Coarctation

(a) Physical examination reveals a well developed infant, child or young adult with either weak or absent femoral pulsations with hyper-

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AGUSTSSON

tension in the upper extremities and considerably lower pressures in the lower extremities. Simultaneous palpation of the femoral and radial pulses usually reveals a definite delay in the femoral pulse. If the coarctation involves the left subclavian artery, the blood pressure is significantly (at least 20 to 25 mm. Hg) lower in the left arm than in the right one. If there is anomalous origin of the right subclavian artery from the aorta distal to the coarctation, the blood pressure in the left arm is higher than that of the right. Rarely, the right subclavian artery arises from the left one and both are located distal to the coarctation. The patient then presents weak pulses and low pressures in all four extremities. In patients with associated aortic stenosis, the blood pressure in the arms is not high, but the pressure in the legs is still lower. Visible pulsations in the suprasternal notch and in the neck arteries are commonly present. Unless there is marked hypertension, the heart is not enlarged to percussion and palpation. In older children and in adults, the cardiac apex is often displaced downward and outward and is forceful and heaving. Abnormal pulsations in the supraclavicular, intercostal and especially interscapular areas due to dilatation of the intercostal and transverse cervical arteries can frequently be felt in the older patient. Sj is normal and may be followed by an early systolic click at the apex and aortic area with an accentuated S2-signs of elevated systemic pressures and dilatation of the ascending aorta. A grade 2/6 to 3/6 ejection systolic murmur is often present in the interscapular area posteriorly, and less frequently over the second and third left interspaces anteriorly. The older child and adult not uncommonly develop an early, high-pitched decrescendo diastolic murmur of aortic regurgitation due to the dilatation of thc aorta in the presence of bicuspid aortic valves. The rare cases of eoarctation of the abdominal aorta can bc suspected clinically by the presence of a systolic or continuous murmur in the epigastric area or back. If the coarctation is located below the origin of the renal arteries, there is usually no systemic hypertension. Epistaxis, headaches, and pain in the calves of the legs may be present, especially if the hypertension is severe. The presence of associated lesions such as patent ductus arteriosus, ventricular septal defcct and aortic stenosis can only be diagnosed on physical examination when the murmurs characteristic of these malformations are present. Although the prognosis is excellent during the pediatric age, older patients, usually in their middle age, often develop subacute bacterial endocarditis, intracranial hemorrhages, rupture of the aorta and congestive heart failure. (b) These infants develop evidences of heart failure early in lifeusually during the end of the first or second month of life. Feeding difficulties, poor weight gain, tachycardia, dyspnea and hepatomegaly are

Bedside Diagnosis of Congenital Malformations of the Heart

739

present. The heart is maximally enlarged due to right and left ventricular hypertrophy as evidenced by a lower parasternal lift and a forceful, dynamic cardiac apex. The rest of the physical findings are the same as described under (a). Most of these infants respond well to medical treatment with digitalis, mercurials and oxygen therapy. The dyspnea and hepatomegaly gradually disappear, and the heart decreases in size over a period of many months. In the absence of associated lesions, it then assumes a near normal size in a year or two, and the electrocardiogram which in infancy showed biventricular hypertrophy reveals only left ventricular hypertrophy. Preductal Coarctation

(a) These infants have a patent ductus distal to the coarctation and a diffuse narrowing of the isthmus of the aorta between the ductus and the left subclavian artery. Ventricular septal defects are much more common in this type than in the postductal type. Because of the location of the constriction proximal to the ductus arteriosus, the stimulus to develop an efficient collateral circulation during fetal life does not appear to be present and these newborn infants do not have adequate collateral circulation. The difference in the strength of the pulses and in the blood pressures of the upper and lower extremities may not be as marked as in the postductal types. Although, theoretically, these infants should have cyanosis of the lower extremities and none of the upper ones, especially of the right hand, clinically this is difficult to detect in the newborn, especially in the presence of a ventricular septal defect with a right-to-left shunt. Definite enlargement of the heart involving both ventricles but predominantly the right one is present, and a grade 3/6 to 4/6 systolic murmur at the left lower sternum is frequently present. Physical examination alone, even when correlated with roentgen ray and electrocardiographic findings, offers great difficulty in the differential diagnosis of this group from the postductal type in which the patients are critically ill in infancy. In our experience, most infants in this group are in heart failure during the first days of life and usually expire in the neonatal period, while those comparatively few infants with postductal coarctation who develop heart failure, do so somewhat later, toward the end of the first or second month of life, and usually respond to medical management. Retrograde aortography can establish the correct diagnosis. (b) If the ductus remains open, these patients present clinical manifestations that offer little difficulty in the differential diagnosis from the postductal type. They give a history of easy fatigability, of marked limitations of exercise tolerance, and of dyspnea. Inspection usually reveals cyanosis of the toes and no cyanosis of the fingers, especially of the right hand. Several cases of the preductal type have, however, been reported in which the pressure in the descending aorta was higher than in the pulmonary artery and in which there was a bidirectional and/or

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AGUSTSSON

a predominant left-to-right shunt through the ductus arteriosus. These patients must have developed sufficient collateral circulation to elevate the pressure in the descending aorta to a higher degree than that in the pulmonary artery. Even if cyanosis is absent, clinically these patients differ from those of the postductal type in the presence of predominant right ventricular hypertrophy. A lower parasternal lift is present due to right ventricular hypertrophy with a forceful apical impulse displaced downward and outward. The electrocardiogram conforms to the auscultatory findings and reveals predominantly right ventricular hypertrophy, while patients with postductal coarctation show left ventricular hypertrophy. The prognosis in these patients is poor. Operation is almost always contraindicated and they expire usually from heart failure or some of the previously mentioned complications. (c) A few patients with preductal coarctation survive and if they have no serious associated defects and adequate collateral circulation following the spontaneous closure of their ductus arteriosus, the clinical picture that they present is that of the usual postductal type. TETRALOGY OF FALLOT

This is the most common entity of the cyanotic congenital malformations of the heart. The pathology consists of pulmonary stenosis or atresia, large ventricular septal defect, varying degrees of dextroposition (overriding) of the aorta and, as a consequence of these factors, right ventricular hypertrophy. The pulmonary stenosis is most commonly infundibular, but it is often infundibular and valvular and rarely valvular alone. The chief decisive factor in the presenting clinical picture is the degree of pulmonary stenosis. The greater the degree of the stenosis the greater is the diminution in the pulmonary blood flow and the more severe is the cyanosis. Serial cardiac catheterization studies in various clinics and in our department have demonstrated the fact that some infants who originally manifest mild degrees of pulmonary stenosis later on in life develop hemodynamic evidences of progressive narrowing and constriction of the outflow tract of their right ventricles. These findings together with the subsequent closure of the patent ductus arteriosus explain why cyanosis is usually not evident in the average case during the first months or first year or two of life. Patients with tetralogy of Fallot may be classified into the following groups: (1) average cases, (2) severe cases and (3) acyanotic cases. Average Cases

These constitute the vast majority of all cases of tetralogy of Fallot. As explained above, the patients do not show any cyanosis during the first months of life. Physical examination during this early period usually reveals a fairly well developed infant without definite cyanosis and cer-

Bedside Diagnosis of Congenital Malformations of the Heart

741

tainly no clubbing of the fingers and toes. There is no precordial bulge and the heart is not enlarged to percussion. 8 1 is normal but 8 2 may be split with a faint, low-intensity pulmonary component, or it may already be single and loud. If the pulmonary stenosis is mild and the ductus arteriosus still open, enough blood will enter the pulmonary vascular bed to result in an audible closure of the pulmonary valves and hence in a split 8 2 • With a greater diminution of the pulmonary blood flow 3 2 is single and loud because the examiner will only hear the loud closure of the aortic valve. A grade 3/6 to 4/6 stenotic ejection murmur is present, maximally at the third left intercostal space associated with a thrill. This murmur is also heard well at the second and fourth left intereostal spaees. In a few instanees, where the pressure in the right ventricle is considerably less than in the left one because the pulmonary stenosis is not yet marked, this murmur assumes a pansystolie character in the lower sternal area. This pansystolic murmur is due to the left-toright shunt through the ventricular septal defect. Toward the end of the first year, eyanosis of the lips, buccal mucosa, eonjunetivae and fingers and toes becomes evident and growth and weight gain may become somewhat retarded. Clubbing of the fingers and toes follows the appearanee of eyanosis. Later on, fatigability and squatting are present. Physieal examination at this stage reveals that the heart is still not enlarged but a preeordial bulge may now be evident and there is a definite lower parasternal lift due to right ventricular hypertrophy. 8 2 is now single and loud and only an ejection systolic murmur is present (Fig. 8). Fatigability and dyspnea on exertion as well as eyanosis and clubbing of the fingers beeome more prominent as the child gets older and exercise tolerance progressively diminishes. The natural course of these patients is steadily downward. Arterial thrombosis, cerebral abscess and subacute bacterial endocarditis are the complieations of this anomaly. Although a few of these patients reach the fifth and even the sixth decades of life, death usually occurs early in the second decade. Severe Cases

These infants are born with severe pulmonary stenosis or rarely atresia. Cyanosis is noted at birth or shortly afterward and clubbing is noted after the first few months of life. Paroxysmal attacks of dyspnea, at times appearing during the exertion of feeding, bowel movement or crying, and at other times without any evident cause, are characterized by marked cyanosis, tachypnea, loss of consciousness and even convulsions. During these attacks, there is usually no fall in blood pressure and murmurs that may have been present in the interval between the attacks temporarily disappear. These paroxysms are believed to be due to sudden and complete obstruction of the infundibulum. Dr. Taussig states that they can be explained by temporary constrietion of the still patent

B. M.

742

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...r,

M. H.

AGUSTSSON

~ ~

.======+.tSM~.l ,~~~~. -J0.~ i: .~ . i .' . ,

tI

. Jj

A

~

.

3L.I.S.

! s. .. t . . , ,;

" "A

' .,

,.

B. Cyanotic Tetralogy Fig. 8. Phonocardiograms in tetralogy of Fallot. Upper tracing: 5 year old girl with acyanotic tetralogy. Note pansystolic murmur (SM) at 4th left interspace, widely split second sound and normal intensity of pulmonic closure sound (P). Lower tracing: 2 year old girl with moderately severe tetralogy. Note short ejection systolic murmur (SM) and the accentuated, single second sound due to loud aortic closure (A).

ductus arteriosus. Feeding difficulties and marked retardation of growth and weight form a prominent part of the clinical picture of these patients. Physical examination reveals no cardiac enlargement except the presence of a lower parasternal lift. SI is often followed by a loud, high-pitched early systolic click heard over most of the left precordium and is due to the dilated aorta. 8 2 is loud and single. The ejection systolic murmur is short and faint, grade 2/6 or 3/6, and in some cases (those with pulmonary atresia) there is no murmur at all. Because of the equivalent pressures in the ventricles, there is no murmur from the ventricular septal defect. The prognosis is poor and, if left alone, these babies usually die before the end of the first year of life or as soon as the ductus arteriosus closes. A few patients develop sufficient bronchial collateral circulation that can be recognized by the presence of a humming continuous murmur over the base of the heart. These murmurs are often heard better posteriorly than anteriorly and during expiration. Unless carefully listened for, these murmurs can be easily missed since they are rather soft and may be localized to almost any area in the chest.

Bedside Diagnosis of Congenital Malformations of the Heart

743

The "Acyanotic" Cases

These forms are rarer than those previously described. The pulmonary stenosis is of a mild degree so that the pressure in the right ventricle is only moderately elevated and the shunt is usually only a left-to-right one through the ventricular septal defect. Physical examination therefore reveals no cyanosis and growth and weight development are within normal limits. The heart size is either normal, or palpation and percussion may reveal slight to moderate left and right ventricular enlargements. SI is normal and S2 is often widely split with a diminished pulmonary component. If slight cyanosis is present on exertion, 8 2 is usually single and loud. 8 s is usually present at the apex. A grade 3/6 to 4/6 systolic ejection murmur is present at the pulmonary area and a somewhat higher pitched, pansystolic murmur may be heard at the fourth and fifth intercostal spaces (Fig. 8). These murmurs are explained by the presence of mild to moderate pulmonary stenosis and by the left-toright shunt through the ventricular septal defect. In general, the above described types of tetralogy of Fallot can be diagnosed from the history and physical findings. At times, however, it is difficult to differentiate these patients from those with ventricular septal defects or from patients with "pure" pulmonary stenosis with a right-to-Ieft shunt at the atrial level. The use of amyl nitrite is a very helpful test for their differentiation. Inhalation of amyl nitrite results in peripheral vasodilatation and a fall of systemic pressure followed by increased venous return to the right atrium and right ventricle. If the ventricular septum is intact, there is a significant rise in right ventricular pressure and a prolongation of right ventricular systole. The ejection murmur of the pulmonary stenosis therefore becomes louder and longer and the splitting of 8 2 is also prolonged. In patients with tetralogy of Fallot, the presence of a large ventricular septal defect and the fall in systemic pressure results in a greater right-to-Ieft shunting into the aorta with a corresponding diminution in the pulmonary blood flow. Cyanosis becomes more evident and the intensity and direction of the ejection systolic murmur is definitely lessened; if the P z was audible before the test, it can no longer be heard. We wish to emphasize that the value of this test is greatly interfered with if the patient is very restless, cries and struggles. It is needless to add that the results of palpation, percussion and auscultation are then equally unsatisfactory, providing another good reason why we sedate these unruly infants and young children. COMPLETE TRANSPOSITION OF THE GREAT VESSELS

This is the second most common cyanotic type of congenital malformation of the heart. The essential pathology consists of transposition of

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M. H.

AGUSTSSON

the great vessels so that the aorta comes off from the right ventricle and the pulmonary artery from the left ventricle. Life is not possible unless an atrial communication (foramen ovale or atrial septal defect) or a patent ductus arteriosus or a ventricular septal defect is presentthe more associated defects the longer is the survival age. Pulmonary stenosis of various degrees mayor may not be present. Cyanosis is present at or soon after birth and, in the absence of pulmonary stenosis, dyspnea is an early and prominent finding. There is a progressive and rapid enlargement of the heart but there are no characteristic auscultatory findings. At times, 8 2 is single and either no murmurs are present at all or a murmur of a ventricular septal defect is present. The diagnosis can only be strongly suspected on physical examination if definite cardiac enlargement can be established in a cyanotic and dyspneic infant. Roentgen ray examination is most helpful in establishing the diagnosis. The heart is enlarged, it is "egg"-shaped with a comparatively narrow base which may become wider in the oblique views and there is marked engorgement of the pulmonary vascular bed. In the neonatal period, this cardiac enlargement may not be evident. Unless large septal defects are present-survival appears to be longer if a large atrial septal defect is present--evidences of congestive heart failure, with hepatomegaly, edema and rales in the lung appear early in life. Most infants die before the age of 12 to 18 months. If pulmonary stenosis is present, the heart does not show progressive cardiac enlargement and dyspnea is less evident. Physical examination cannot differentiate this entity from severe tetralogy of Fallot. Angiocardiography and cardiac catheterization are necessary to establish the diagnosis. TRICUSPID ATRESIA

There are several types of this anomaly, but we shall limit this clinical discussion to two of the most common: Type I, characterized by marked cyanosis and normal or diminished pulmonary blood flow, and Type Il, with mild to moderate cyanosis and incnmsed pulmonary blood flow.

Type I Every patient with tricuspid atresia must have an interatrial communication-either an open foramen ovale or an atrial septal defect. For life to be maintained, either a patent ductus arteriosus, a ventricular septal defect or extensive collateral bronchial circulation must be present. Most of these infants become cyanotic soon after birth. Rarely the presence of a fairly good-sized ventricular septal defect delays the onset of definite cyanosis for a number of weeks or even months. The auscultatory findings depend upon the associated lesions. Unless physical e:cam-

Bedside Diagnosis of Congenital Malformations of the Heart

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ination reveals a forceful apical impulse-a sign of left ventricular hypertrophy-it is impossible to differentiate this entity from severe tetralogy of Fallot. If, however, a large "a" wave is present in the neck veins and there is presystolic pulsations of the liver-a sign of the absence of a good-sized atrial septal defect-the diagnosis becomes more certain. Although roentgen ray films in the postero-anterior, right and left anterior views often establish the presence of a large left ventricle and of an underdeveloped right one, we, in common with others, have not always been able definitely to differentiate the right from the left ventricle in the roentgen films. However, electrocardiography and vectorcardiography establish the presence of left ventricular hypertrophy in almost every instance. Type 11

These patients have the same defects as those described under Type I but there is also tranposition of the great vessels without pulmonary stenosis. The pulmonary artery is markedly dilated since it receives most of the blood from both atria and from the huge left ventricle. These infants are dyspneic and only slightly or moderately cyanotic. The heart is usually larger than in Type I, and in our experience the presence of left ventricular hypertrophy is also easier to establish by physical examination in this type. In several cases, the presence of a third heart sound, at times followed by a short mid-diastolic rumble due to the large and rapid blood flow across the mitral valve, was very helpful in confirming the presence of left ventricular hypertrophy and of a large pulmonary blood flow. Roentgen ray examination in these cases established the presence of a large pulmonary artery and on fluoroscopy the pulsations of these pulmonary arteries were probably more marked than those in any other congenital malformations of the heart. Although these patients appear less cyanotic than those with Type I defect, the prognosis is poor. As a matter of fact, Type I atresia could be helped by a Blalock or Potts operation, but these operations are contraindicated since the patients already have an excessive pulmonary blood flow. REFERENCE 1. Gasul, B. M., Arcilla, R. A. and Agustsson, M. H.: Office Diagnosis of Congenital Malformations of the Heart. Postgrad. Med. 30---138: 119 (Aug.), 191-199 (Sept.) 1961. 700 South VVoodStreet Chicago 12, Illinois