Cyanosis and Clubbing

Even before mild desaturation is detectable, early clubbing and cyanosis may be seen (Figs. 5-1 and 5-2). The base of the nail, especially the thumbnail, may show loss of the angle as early as 3 months of age (see Chapter 16). Elevated hemoglobin and hematocrit and loss of nail angle indicate hypoxemia and the presence of a right-to-left intracardiac shunt (Fig. 5-3). If heart disease is excluded, chronic pulmonary disease should be considered as another potential cause of clubbing.

Figure 5-1 Mild cyanosis. A, This child shows no obvious cyanosis of the face and lips, although the photograph in B demonstrates clubbing; note the loss of nail angle and curvature of the nails, especially of the thumb.

Figure 5-2 Moderate cyanosis. This child demonstrates moderate cyanosis of the lips (A) and nails (B). Note also the reddish discoloration of the eyes resulting from conjunctival suffusion.

Figure 5-3 Severe cyanosis. Severe cyanosis of the lips, tongue, and mucous membranes can be noted in A, associated with marked clubbing and cyanosis of the nails in B.

Observation of the lips and mucous membranes for the presence of cyanosis is best done in good daylight because fluorescent lighting may produce a false cyanotic tinge. In the presence of polycythemia with hemoglobin in the 18 to 20 gm/dL range and hematocrit greater than 60%, the conjunctival vessels become engorged and plethoric (see Fig. 5-2). Conversely, when a patient is anemic, visible cyanosis can be easily missed (this is particularly important in infancy, when babies reach the physiologic nadir in hematocrit). Differential cyanosis between the upper and lower extremities is an unusual clinical finding. If the patient has pulmonary vascular disease, reverse flow through a patent ductus arteriosus with no right-to-left intracardiac shunting, cyanosis, and clubbing may be found in the lower extremities but not in the hands (Fig. 5-4).

Figure 5-4 Differential cyanosis and clubbing resulting from reverse shunting through a patent ductus arteriosus in a patient with pulmonary vascular disease. Note the marked cyanosis and clubbing of the toes, although the finger appears to be normal.

(Courtesy J.R. Zuberbuhler, MD, Pittsburgh, Pa.)

Blood Pressure and Pulse

Blood pressure determination in infants and children is an integral part of the cardiac physical examination. Attention to proper cuff size prevents the misdiagnosis of systolic hypertension from an undersized cuff. In general, it is better to use an oversized cuff because overestimation of systolic blood pressure can be avoided. Blood pressure can be tracked in children over time, and tables depicting normal blood pressure range for age have been published. Blood pressure determination in both arms and a lower extremity will detect coarctation of the aorta, lend support for the diagnosis of supravalvular aortic stenosis (blood pressure higher in the right arm than in the left arm, due to the Coanda effect), and help to assess the severity of aortic valve disease including aortic valve stenosis (narrow pulse pressure) and aortic regurgitation (wide pulse pressure).

Heart Murmur Evaluation

Murmurs are relatively common in the newborn period. A common innocent heart murmur (peripheral pulmonic stenosis) during this period originates from the branch pulmonary arteries because of their relatively small size compared with the main pulmonary artery; this is a result of the normal fetal flow pattern, which delivers limited flow to the right and left pulmonary arteries. Characteristically, this murmur is early systolic and loudest over both axillae and the back. The murmur of branch pulmonary artery stenosis has the same distribution as the structural lesions that cause increased pulmonary blood flow. A transient systolic murmur at the middle-low left sternal border in the normal newborn can be due to tricuspid regurgitation, and a soft systolic ejection murmur at the upper left sternal border may arise from a closing patent ductus arteriosus. A large ventricular septal defect does not produce a murmur in the newborn period because the initially high pulmonary vascular resistance results in minimal shunting across the defect. On the other hand, pathologic systolic murmurs in the newborn are caused by restrictive ventricular septal defects and lesions producing left and right ventricular outflow tract obstruction (i.e., tetralogy of Fallot and valvular aortic or pulmonary stenosis). In the newborn it can be difficult to distinguish the murmur of a small restrictive ventricular septal defect from that of a severe right ventricular outflow tract obstruction in tetralogy of Fallot or left ventricular outflow obstruction. The implications of this differential diagnosis are such that an echocardiogram is recommended for infants with this clinical presentation.

Contrary to popular belief, the presence of a continuous murmur from a patent ductus arteriosus is extremely rare in a full-term newborn. This is because the normal elevation of pulmonary artery pressure at this age minimizes the diastolic gradient between the aorta and pulmonary artery, attenuating or eliminating any diastolic component of the murmur. If a continuous murmur is heard in the newborn, patent ductus–dependent pulmonary blood flow or systemic to pulmonary collateral vessels in association with pulmonary atresia complex should be considered.

Preschoolers and school-age children are commonly referred for evaluation of a heart murmur. Innocent murmurs of childhood fall into four major categories: systolic ejection murmurs at the base; vibratory, or Still’s, murmur; venous hums; and carotid and cranial bruits. In most instances there are associated clinical and laboratory studies that can distinguish the innocent from the pathologic murmur. Table 5-1 summarizes the distinguishing features and differential diagnosis. Figure 5-5 illustrates the sites where murmurs resulting from various cardiovascular lesions are best heard.

Table 5-1 Innocent Murmurs Mimicking Congenital Heart Disease

* Distinguishing features.

Figure 5-5 Sites where murmurs resulting from various cardiovascular lesions are best heard.

Syndrome-associated Physical Findings

Dysmorphology of the face and habitus suggests certain syndromes associated with congenital heart disease (Table 5-2).

Table 5-2 Dysmorphology Syndromes and Trisomies with Associated Cardiovascular Abnormalities

The typical features in Down syndrome (trisomy 21) are discussed in Chapter 1. About 40% of children with this syndrome have structural lesions such as atrioventricular septal defects (complete or partial AVSD), isolated ventricular septal defects, patent ductus arteriosus, or anomalous origin of the subclavian arteries. Although many infants with Down syndrome and congenital heart disease have chronic congestive heart failure and growth failure, there is a subset of infants with a significant septal defect who may grow and develop appropriately. This is related to abnormally high pulmonary vascular resistance not decreasing in the usual fashion in this group, leading to early pulmonary vascular disease. Because this presentation may be silent, it is important that all children with Down syndrome be thoroughly evaluated during early infancy. The evaluation should include an echocardiogram to rule out congenital heart disease.

DiGeorge and velocardiofacial syndromes are related developmental disorders involving the third and fourth pharyngeal pouches. They have been shown to be caused by deletions within a critical region of chromosome 22q11 (which can be evaluated by a blood test, namely, fluorescence in situ hybridization [FISH], for 22q11 deletion). Cardiac abnormalities, particularly the conotruncal type and aortic arch anomalies, occur in 75% of patients with 22q11 deletion (see Table 5-2). Other findings include hypocalcemia, cleft palate, renal anomalies, immunologic defects, facial dysmorphisms, and variable developmental delay with educational and behavioral issues (see Chapter 4).

Ellis-van Creveld syndrome is an autosomal recessive disorder characterized by multiple gingival frenula, natal teeth, and polydactyly (Fig. 5-6). The patient with this syndrome frequently has an atrial septal defect or a common atrium.

Figure 5-6 Ellis–van Creveld syndrome. Note the gingival frenula and natal teeth (A) and multiple digits (polydactyly) (B).

Holt-Oram syndrome, an autosomal dominant disorder, is associated with upper limb deformities consisting of narrow shoulders, hypoplasia of the radius, and phocomelia (Fig. 5-7). Absence of both radius and thumb or proximal displacement of the thumb is the most frequent finding. Commonly associated cardiovascular abnormalities include an atrial septal defect, ventricular septal defect, and arrhythmias (atrial and ventricular ectopy and atrioventricular block).

Figure 5-7 Holt-Oram syndrome. Note the absence of the radius and thumb (A). The associated cardiovascular abnormality is an atrial septal defect. Radiographic examination (B and C) demonstrates the absence of a radius shadow; the missing thumb is apparent.

Marfan syndrome also has autosomal dominant inheritance; it manifests as a connective tissue disorder in which the elastic fibers are disrupted, causing cystic medial necrosis of the aorta, as well as joint laxity and subluxation of the ocular lens. Affected patients are tall, with increased limb length compared with the trunk. Their arm span exceeds their height. The cardiovascular abnormalities nearly always found in this syndrome include aneurysmal dilation of the aorta and aortic sinuses and mitral valve prolapse. Associated aortic and mitral valve regurgitation are common (Fig. 5-8) (see Chapter 1).

Figure 5-8 Infant with Marfan syndrome. A, Note the narrow elongated face, pectus excavatum, and long arms and fingers. B, A close-up view of the infant’s hand.

The most common cardiac defects in Turner syndrome are coarctation of the aorta and a bicuspid aortic valve. (See Chapters 1 and 9 for a detailed discussion of Turner syndrome).

Patients with Noonan syndrome have features characteristic of Turner syndrome but possess a defect on chromosome 12 and may be male or female. Clinically, these children have the findings of webbing of the neck, pectus excavatum, shield chest with widely spaced nipples, short stature, epicanthal folds, low-set ears, and increased carrying angle of the arms (Fig. 5-9). Common cardiovascular defects include pulmonary stenosis in association with a dysplastic pulmonary valve, atrial septal defect, and hypertrophic cardiomyopathy. On occasion, there may be dysplasia of all cardiac valves. The syndrome appears as an autosomal dominant disorder; multiple members of a family are often affected.

Figure 5-9 Noonan syndrome. Note the widely spaced eyes, low-set ears, webbing of the neck, shield chest, pectus, and increased carrying angle of the arms.

Patients with Williams syndrome characteristically have “elfin” facies: a broad maxilla, a small mandible with full mouth and large upper lip (philtrum), upturned nose, and a full forehead (Fig. 5-10). This syndrome has been associated with hypercalcemia in infants, a strikingly affable personality despite variable degrees of developmental delay, and has an identifiable genetic abnormality. Supravalvular aortic stenosis and pulmonary artery branch stenosis are the common cardiovascular abnormalities associated with this syndrome.

Figure 5-10 Williams syndrome. Note the wide-set eyes, upturned nose, large maxilla, prominent philtrum, and pointed chin.

(Courtesy R.A. Mathews, MD, Philadelphia, Pa.)

In addition, there are many other genetically determined diseases and inborn errors of metabolism with cardiac involvement, the most common of which are listed in Table 5-3.

Table 5-3 Other Genetic Syndromes and Inborn Errors of Metabolism with Associated Cardiovascular Findings

Visible Clues in Acute Rheumatic Fever

Examination of the skin in a patient with acute rheumatic fever may reveal the typical rash of erythema marginatum, although this rash is not specific for rheumatic fever. It is evanescent, nonpruritic, has sharp serpiginous margins, and is found on the inner aspects of the upper arms and thighs and on the trunk (Fig. 5-11). The differential diagnosis includes (1) drug rash, which is papular and pruritic; (2) erythema multiforme, which has target lesions; (3) rash of juvenile rheumatoid arthritis, which is pink, macular, and lacks wavy margins, and which may be transient; and (4) the cutaneous findings of Kawasaki disease (see Chapter 7).

Figure 5-11 Erythema marginatum rash in a child with acute rheumatic fever. Note the wavy margins in the distribution on the trunk.

Subcutaneous nodules are rare in chronic rheumatic heart disease, but if found, they are almost always associated with severe carditis. These movable, nontender, cartilage-like swellings vary in size from 2 mm to 1 cm and are persistent. They are seen over the bony prominences of the large joints and external surfaces of the elbows and knuckles of the hands, knees, and ankles. They may also be felt along the spine and over the skull. Although difficult to photograph, they are easily palpated (Fig. 5-12).

Figure 5-12 Subcutaneous nodules. Note their presence over the bony prominences of the elbow in a patient with chronic rheumatic heart disease.

Signs of Bacterial Endocarditis

Although the clinical presentation of bacterial endocarditis varies according to the infecting organism, it should be suspected in any patient with congenital or acquired heart disease who has prolonged fever without apparent cause. The classic skin lesions include petechiae, splinter hemorrhages of the nails, conjunctival hemorrhages, and Janeway lesions (Fig. 5-13), all of which are manifestations of vasculitis. Vegetations occasionally dislodge and embolize in an end artery, which results in hemorrhagic or gangrenous lesions (Fig. 5-14). Osler’s nodes, which present as small tender erythematous nodules, are found in the intradermal pads of the fingers and toes or in the thenar or hypothenar eminences (Fig. 5-15). All the aforementioned findings are often associated with a new heart murmur, splenomegaly, spiking fever, and positive blood culture. Clubbing of the fingers may occur in chronic cases.

Figure 5-13 Janeway lesions. Note the small (painless) nodules on the sole of a patient with bacterial endocarditis.

Figure 5-14 Acute bacterial endocarditis. Note the hemorrhagic lesions (A) and subungual splinter hemorrhages (B).

Figure 5-15 Osler’s nodes. Note the (painful) erythematous nodular lesions resulting from infective endocarditis.

(Courtesy J.F. John, Jr., MD.)

Kawasaki Disease

This multisystem disease has surpassed acute rheumatic fever as the most common form of acquired heart disease in children. It is characterized by fever, conjunctivitis, erythema of the lips and oral mucosa, extremity changes, rash, and cervical adenopathy. Coronary artery aneurysms develop in 15% to 25% of untreated patients and may result in myocardial ischemia, infarction, or sudden death. The incidence of coronary abnormalities is markedly decreased with timely treatment (~5%). This disease is discussed in detail in Chapter 7. Coronary artery aneurysms are well demonstrated by echocardiography (Fig. 5-16), and this imaging modality plays an essential role in the diagnosis and management of Kawasaki disease.

Figure 5-16 Kawasaki disease: Giant coronary artery aneurysms. Multiple giant coronary aneurysms of the right (RCA, red arrow), left (LCA, green arrow), and left anterior descending (LAD, yellow arrow) coronary arteries. Ao, aorta; PA, pulmonary artery.

Chest Roentgenography

The chest x-ray examination is useful to screen patients with suspected congenital heart disease. It is particularly useful in differentiating cardiac from pulmonary pathology such as pneumonia, pneumothorax, pneumomediastinum, or other parenchymal lung disease that may mimic congenital heart disease. The review of any chest roentgenogram requires a systematic approach.

Cardiac Apex and Visceral Situs

The location of the cardiac apex and visceral situs provides important diagnostic information. Discordance of the situs and cardiac apex (i.e., apex to the right with situs solitus [normal arrangement] or apex to the left with situs inversus) is often associated with structural congenital heart disease (Figs. 5-17 and 5-18). Dextrocardia (apex to the right) or mesocardia (apex to the middle) with situs solitus is a frequent presentation of ventricular inversion or corrected transposition of the great arteries (see Fig. 5-17). Dextrocardia can also be seen with primary pulmonary problems. Scimitar syndrome is composed of dextrocardia with hypoplasia of the right lung (Fig. 5-19). In this case a major portion of the right lung (usually the right lower lobe) is “sequestered” and has its arterial supply by way of a systemic artery from the descending aorta, and the pulmonary venous return from that lung drains abnormally into the inferior vena cava via a vein forming a scimitar (see Fig. 5-19). Patients with levocardia (apex to the left) with either situs inversus or situs ambiguus frequently have complex congenital heart diseases such as transposition of the great arteries, pulmonary atresia, and atrioventricular septal defects. Atrial isomerism is associated with bilateral morphologic right or left lungs and can be recognized as bilateral symmetrical right (short) or left (long) bronchi. This is best demonstrated with a magnified penetrated chest x-ray examination focusing on bronchial anatomy (Fig. 5-20). Almost all patients with this anomaly have complex congenital heart disease.

Figure 5-17 Dextrocardia (heart in the right side of the chest) associated with situs solitus. Note the prominent vascular shadow along the left-sided cardiac border that is caused by the aorta. This pattern is commonly associated with ventricular inversion (corrected transposition of the great arteries).

Figure 5-18 Levocardia with situs inversus. Discordance of the apex of the heart and visceral situs is often associated with structural congenital heart defects. The hepatic portion of the inferior vena cava is absent in this patient, and there is azygos vein continuation. (Note the prominence of the shadow at the high right-sided cardiac border.) Note air in the stomach under the right hemidiaphragm.

Figure 5-19 Scimitar syndrome. A, Note the hypoplastic right lung and scimitar-shaped shadow formed by pulmonary veins draining the sequestered segment and connecting to the inferior vena cava. B, Note also the systemic artery coursing diagonally upward from the abdominal aorta to the sequestered lobe.

Figure 5-20 Atrial isomerism. Note the symmetrical bronchial anatomy. Atrial isomerism should be suspected when the heart is midline on the chest radiograph and situs ambiguus is present. The best radiographic sign of right or left atrial isomerism pertains to the symmetry of bronchial anatomy, with right atrial isomerism being related to bilateral right bronchi and left atrial isomerism to bilateral left bronchi.

Shape and Size

Cardiac size is important, but the shape of the cardiac image may also provide a clue as to which heart chambers are enlarged and the likely structural diagnosis. In the cyanotic newborn with transposition of the great arteries, the cardiac image appears as an “egg on a string” (Fig. 5-21). If the thymic shadow does not obscure it, the mediastinal shadow shows a narrow waist resulting from the posteromedial position of the main pulmonary artery. This produces the “string.” Pulmonary vascular markings are usually increased, although vascularity may be normal in the immediate newborn period.

Figure 5-21 Transposition of the great arteries. Note the “egg on a string” heart shadow, which results from the position of the main pulmonary artery posterior and slightly to the left of the aorta, contributing to the narrow waist (the “string”).

In tetralogy of Fallot with pulmonic stenosis, the heart appears “boot-shaped” because right ventricular hypertrophy causes the apex (toe of the boot) to turn upward (Fig. 5-22). The concavity of the left upper cardiac border is due to the small right ventricular outflow tract and main pulmonary artery segment.

Figure 5-22 Tetralogy of Fallot with pulmonic stenosis produces a “boot-shaped” heart, which results from right ventricular hypertrophy, upward tilt of the apex, and the concavity at the left upper heart border caused by a small right ventricular infundibulum and main pulmonary artery. Note also the right aortic arch.

In tetralogy of Fallot with pulmonary atresia, the heart is shaped like an “egg on its side” (Fig. 5-23). The pulmonary blood flow to the lungs may be supplied by either a patent ductus arteriosus or systemic arterial collateral vessels. The pulmonary vascular markings are decreased if pulmonary blood flow is patent ductus dependent and increased if large systemic collaterals supply pulmonary blood flow.

Figure 5-23 Tetralogy of Fallot with pulmonary atresia. Note the “egg on its side” appearance of the heart, due to the uplifted apex resulting from the right ventricular hypertrophy. The absence of a right ventricular outflow and the diminutive main pulmonary artery segment produce a concavity at the left upper heart border. Note also that a right aortic arch is present.

In congenitally corrected transposition of the great arteries, the heart has a “valentine” or “heart” shape with the apex pointing downward just to the left of the midline, as shown in Figure 5-24. The fullness at the left upper border of the cardiac shadow is due to the ascending aorta arising from the left-sided morphologic right ventricle.

Figure 5-24 Corrected transposition of the great arteries. Note the characteristic “valentine-shaped” heart and the left-sided ascending aorta.

Although an enlarged and globular heart shadow may be associated with a cardiomyopathy, massive cardiac enlargement (so-called “wall-to-wall” heart) is typical in patients with Ebstein anomaly. In this anomaly there is a malformation of the tricuspid valve with downward displacement of the inferior and septal leaflets of the valve into the ventricle, causing severe tricuspid valve regurgitation or stenosis. As a result, the right atrium becomes markedly enlarged and, along with the “atrialized” portion of the right ventricle, contributes significantly to the cardiac image of a large box-shaped heart (Fig. 5-25).

Figure 5-25 Ebstein anomaly of the tricuspid valve. Note the radiographic appearance of a “box-shaped” heart, enlarged right atrium, and prominent right ventricular outflow tract.

Left-to-right shunt lesions from atrial septal defects, ventricular septal defects, or a patent ductus arteriosus demonstrate specific chamber enlargement and increased pulmonary vascular markings. A significant atrial defect shows enlargement of all right-sided cardiac chambers including the right atrium, right ventricle, and pulmonary artery (Fig. 5-26). A patent ductus arteriosus shows enlargement of all left-sided cardiac chambers including the aorta. In patients with a ventricular septal defect, the right atrium is the only heart chamber that is not enlarged.

Figure 5-26 Atrial septal defect. Note the enlarged right atrium, right ventricle, and pulmonary artery, as well as the increased pulmonary vascular markings on this radiograph.

Great Vessels

The radiographic appearance of the great arteries may also suggest a specific structural congenital heart defect. The main and left branch pulmonary arteries are usually enlarged in patients with pulmonary valve stenosis, due to poststenotic dilation (Fig. 5-27). The characteristic radiographic finding of congenital aortic valve stenosis is dilation of the ascending aorta, best seen as an overlapping shadow with the superior vena cava along the right upper cardiac border (Fig. 5-28). Coarctation of the aorta not diagnosed in a timely fashion may show the distinct radiographic finding of a “reversed E” or “3” sign caused by prestenotic and poststenotic dilation of the descending aorta (Fig. 5-29). If a significant coarctation remains unrepaired for 5 to 10 years, rib notching may appear (see the section Skeletal Abnormalities, below).

Figure 5-27 Pulmonic valve stenosis. Note the typical radiographic abnormalities of a prominent main and left pulmonary artery.

Figure 5-28 Aortic valve stenosis. Note the dilation of the ascending aorta, which is the only radiographic sign in children.

Figure 5-29 Coarctation of the aorta. Note that the site of the stenosis can be observed at the center of the “3” sign formed by the prestenotic and poststenotic dilation of the aorta in this characteristic radiograph in a 5-year-old child.

The normal left aortic arch causes a shift of the tracheal air column to the right, whereas a right arch causes a similar deviation to the left (Fig. 5-30). The position of the thoracic descending aorta also helps define the side of the arch and can be determined by noting obscuring of either the left or right side of the thoracic vertebral bodies. A right aortic arch should always raise the suspicion of congenital heart disease and is found in approximately 30% of patients with tetralogy of Fallot or truncus arteriosus.

Figure 5-30 Right aortic arch in a child with truncus arteriosus. Note the deviation of the tracheal air column to the left.

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