Table 30-1 lists the most common known chromosomal abnormalities associated with heart disease. Information about ordering genetic tests and resources for families is available from the National Institutes of Health (NIH) website (http://www.nih.gov/) and in-depth information about specific genetic defects or syndromes is available from Online Mendelian Inheritance in Man (OMIM) website (http://www.ncbi.nlm.nih.gov/omim). Genetic testing should also be done in children who have, in addition to CHD, other congenital anomalies, dysmorphic features, neurocognitive deficits, growth retardation, mothers with multiple miscarriages, or siblings with congenital defects (Goldmuntz and Lin, 2008).

TABLE 30-1 Congenital Malformation Syndromes Associated With Selected Congenital Heart Disease

Disorders	Resultant Heart Defect(s)/Occurrence
Syndromes With Chromosomal/Gene Disorders
Trisomy 21 (Down syndrome)	Atrioventricular septal defect, VSD, ASD, PDA, TOF (50%)
Trisomy 18 (Edwards syndrome)	VSD, ASD, PDA, COA, bicuspid aortic or pulmonary valve (99%)
Trisomy 13 (Patau syndrome)	VSD, PDA, dextrocardia (90%)
Turner syndrome (XO)	Bicuspid aortic valve, COA (35%), pulmonic stenosis
Marfan syndrome (FBN1 gene)	Mitral valve prolapse, aortic root dilation
22q11.2 deletion syndrome	Interrupted aortic arch, truncus arteriosus, TOF, perimembranous VSD, aortic arch anomalies
Klinefelter variant (XXXXY)	PDA, ASD (15%)
Williams syndrome	PS, supravalvular AS
Noonan syndrome (PTPN11)	Valvular pulmonic stenosis, hypertrophic cardiomyopathy
CHARGE (gene CHD7)	Truncus arteriosus, interrupted aortic arch type B
Jacobsen (11q23 deletion)	Hypoplastic left heart syndrome, COA
Long QT syndrome	Palpitations, syncope, sudden death
Holt-Oram syndrome (TBX5)	ASD, VSD
Cri du chat syndrome (5p)	VSD, PDA, ASD (25%)
Neurofibromatosis	PS, COA
Nonhereditary Syndromes
Fetal alcohol syndrome	VSD, PDA, ASD, TOF (25%-30%)
Fetal hydantoin syndrome	PS, AS, COA, PDA, VSD, ASD (<5%)
Fetal trimethadione syndrome	TGA, VSD, TOF (15%-30%)
Infant of diabetic mother	TGA, VSD, COA (3%-5%); cardiomyopathy (10%-20%)
Pierre Robin syndrome	VSD, PDA (29%); ASD, COA, TOF (less commonly)
VATERL association	VSD, other defects (>50%)
Congenital diaphragmatic hernia	VSD, TOF (25%)
Cornelia de Lange (de Lange) syndrome	VSD (30%)
Other System Malformations
Hydrocephalus	VSD, ECD, TOF (6%)
Dandy-Walker syndrome	VSD (3%)
Tracheoesophageal fistula and/or esophageal atresia	VSD, ASD, TOF (21%)
Imperforate anus	TOF, VSD (12%)

AS, Aortic stenosis; ASD, atrial septal defect; COA, coarctation of the aorta; ECD, endocardial cushion defect; PDA, patent ductus arteriosus; PS, pulmonary stenosis; TGA, transposition of the great arteries; TOF, tetralogy of Fallot; VATERL, vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal and/or radial anomalies, limb defects; VSD, ventricular septal defect.

Data from Goldmuntz E: The genetic contribution to congenital heart disease, Pediatr Clin North Am 51:1721-1737, 2004; Lin A, Belmont J, Malik S: Heart. In Stevenson R, Hall J, editors: Human malformations and related anomalies, ed 2, Oxford, 2006, Oxford University Press; Park MK, Troxler RG: Pediatric cardiology for practitioners, ed 4, St Louis, 2002, Mosby.

Two percent to 4% of CHD is caused by well-documented teratogens and maternal conditions or environmental influences. Teratogens known to affect the heart include maternal use of thalidomide, cocaine, lithium, fluconazole, phenothiazine, alcohol, anticonvulsants, and retinoic acid. Maternal exposure to pesticides and solvents has also been associated with CHD. Infection, especially cytomegalovirus, mumps, or rubella, contracted in the first 8 weeks of gestation can cause CHD. Infants born to mothers with insulin-dependent diabetes, systemic lupus erythematosus (SLE), and phenylketonuria also have increased risk for various cardiac defects (Goldmuntz and Lin, 2008) (Box 30-1 and Table 30-1).

BOX 30-1 Risk Factors Suggestive of Congenital Heart Disease

Perinatal Risk Factors

Maternal infections and exposures (CMV, rubella, other viral syndromes)

Maternal use of tobacco, alcohol, street drugs, retinoic acid, hydantoins, lithium, valproates

Maternal chronic disease (CHD, lupus, insulin-dependent diabetes, phenylketonuria)

Maternal age at child’s birth (increase in chromosomal abnormalities after 40 years old)

Maternal pregnancy history (excessive weight gain, gestational diabetes)

Neonatal Risk Factors

Fetal or newborn distress (aspiration, hypoxia, cyanosis)

Prematurity (increased incidence of CHD in premature infants)

Presence of associated anomalies (genetic or chromosomal abnormalities or syndromes)

Neonatal infections (GBS)

Birthweight (term infants, <2500 g; SGA, <2 standard deviations from the mean for gestational age)

Newborn Risk Factors

Murmur at birth or early infancy

Hypertension (at birth or beyond)

Feeding difficulty (SOB, easily fatigued, diaphoresis, poor intake)

Cyanosis (increase with crying, feeding, exertion)

Tachypnea (persistent, with crying, feeding)

Assessment of the Cardiovascular System

Cardiac assessment includes a comprehensive history, a thorough physical assessment, and a variety of diagnostic tests.

History

Cardiac evaluation includes review of the family, maternal, fetal, neonatal, and infant medical history, in addition to growth and development (see Box 30-1 for risk factors).

Physical Examination

Physical assessment in a child with suspected CHD should be adapted to the age of the child (Box 30-2). Be flexible, yet thorough, in any evaluation and include all aspects of the physical examination in an order that best suits the comfort and needs of the infant, child, or adolescent.

BOX 30-2 Developmental Approach to Cardiac Assessment

Infants

Complete the assessment with the infant in the parent’s arms to keep the infant quiet and cooperative.

Perform uncomfortable aspects of the examination after auscultation to ensure a quiet listen.

Keep the infant covered and warm to minimize discomfort and physiologic changes associated with chilling.

Observe color, respiratory effort, and general effort level while the baby is quiet.

Toddlers

Approach the child quietly, calmly, and slowly. A loud, boisterous greeting may frighten the toddler.

Complete the assessment wherever the child is most comfortable—sitting on the floor, in the parent’s lap, on the examination table.

Allow the child to handle a stethoscope while the history is being taken.

Have a toy or distraction item available during the examination.

Consider “listening” to the parent’s heart first to improve comfort with the examination.

School Age

Clearly explain the plan and expectations before the examination.

Answer the child’s questions honestly.

Talk about topics of interest (school, sports) during the examination.

School-age children may be modest and prefer to keep a gown on during most of the examination.

School-age children may be helpful in discussion of symptoms and events surrounding current concerns.

Adolescents

Questions should be directed at the adolescent and parent.

Communicate in a manner that conveys honesty, professionalism, and interest in their concerns.

Ensure privacy related to both the physical examination and information sharing.

Provide a choice of having a parent present for any or all aspects of the history and examination.

Adolescents are very “body aware” and need reassurance that their concerns are valid, even when the symptom is within normal limits.

Vital Signs

Heart rate, respiratory rate, and BP vary considerably throughout childhood. Measurements of vital signs must be obtained on each visit with the child at rest because crying and exercise affect results. Refer to charts for normal ranges for various age groups, gender, and height for comparison.

• Heart rate (Table 30-2). Heart rates should always be obtained by auscultation of the heart in children younger than 10 years old. Assessment should include rate and rhythm variations. An increased heart rate can be caused by excitement, anxiety, hyperthyroidism, heart disease, anemia, or fever. Assess the rhythm for regularity.

• Pulses. Pulses should be checked in the upper and lower extremities and evaluated for character (strength) and variation between the different sites. A bounding pulse may indicate a PDA or aortic insufficiency. Weak or “thready” pulses may indicate CHF or an obstructive lesion, such as severe AS. Good brachial pulses in conjunction with weak or absent femoral pulses may indicate coarctation of the aorta (COA).

• BP. The National Institutes of Health National High Blood Pressure Education Program (NIH-NHBPEP) (2004) on BP control in children and adolescents recommends measuring BP annually beginning at 3 years of age. Providers should auscultate BP on children 3 years or older. In selected cases, in which the index of suspicion of heart disease is high, providers should check BPs in younger children. It is important to always use a BP cuff that is appropriate for the child’s size. For arm pressure, the width of the cuff should be two thirds the length of the upper arm measured from the axilla to the antecubital space. A cuff that is too narrow or does not fit around a chubby arm may cause an erroneously high reading. Cuff sizes of 3, 5, 7, 12, and 18 cm should be on hand in order to accommodate the array of pediatric patient sizes. Initial evaluation should compare the pressure in all four extremities. Pressure in all extremities should be equal, with pressure in the legs being slightly higher (10 to 20 mm Hg) in a child who walks. Lower extremity pressure is measured with the stethoscope placed over the popliteal artery. The NIH periodically publishes norms for BP by gender, age, and height; they are found in Tables 30-3 and 30-4 (NIH-NHBPEP, 2004).

• The pulse pressure (difference between systolic and diastolic pressure) is normally 20 to 50 mm Hg throughout childhood. A wide pulse pressure caused by an abnormally low diastolic pressure may be an indication of PDA, aortic regurgitation, or other cardiac pathologic conditions.

• Respiratory rate. Evaluation of the respiratory system includes the respiratory rate, assessment of effort, and breath sounds in all five lobes of the lungs. It is important to evaluate the respiratory rate in a quiet infant or child. A respiratory rate greater than 40 in a young child or 60 in a newborn who is quiet, resting, and afebrile warrants further evaluation. An infant with CHD may be happily tachypneic and not show significant signs of grunting, intercostal retractions, nasal flaring, or tracheal tug (up and down movement of the trachea with each inspiration).

• Oxygen saturation. Oxygen saturation is considered to be an essential vital sign in many settings. It is important to obtain oxygen saturations in new babies or new patients because cyanosis is often subtle and not always readily perceptible to all examiners. Pulse oximetry alone may detect cyanotic heart disease in asymptomatic newborns, preventing possible mortality and morbidity from delayed diagnosis (Mahle et al, 2009).

TABLE 30-2 Normal Heart Rates (Beats per Minute) in Infants and Children

TABLE 30-3 Blood Pressure Levels in the 90^th and 95^th Percentiles for Girls 1 to 17 Years Old by Percentiles of Height

TABLE 30-4 Blood Pressure Levels in the 90^th and 95^th Percentiles for Boys 1 to 17 Years Old by Percentiles of Height

General Appearance

The provider should observe an infant while obtaining a history and before performing any other part of the physical examination. General nutritional state, respiratory effort, color, physical abnormalities, and distress or discomfort level should be observed.

• During this observation period note the presence of unusual facial characteristics (e.g., malformed ears, wide-spaced eyes, noticeable anomalies) or extracardiac anomalies (e.g., cleft lip or palate, polydactyly, microcephaly) that may be associated with a syndrome or chromosomal abnormalities. Children may have obvious stigmata, such as those seen with Down syndrome, Marfan syndrome (unusually tall with an arm span wider than the head-to-toe height), Turner syndrome (webbed neck, prominent ears), or fetal alcohol syndrome (microcephaly and pinched facies), all of which are associated with CHD.

• Overall skin color should be assessed for signs of mottling or central cyanosis while the infant is at rest. Cyanosis caused by heart disease is recognized as a pale blue or ruddy red color of the mucous membranes (lips, tongue, nailbeds). The tongue is the best indicator because it lacks pigmentation and is abundantly served by the vascular system. Peripheral cyanosis or acrocyanosis, a blueness or pallor noted around the mouth and on the hands or feet, can be a normal variant, especially if it intensifies when the infant is cold. Clubbing of the fingers and toes may be seen in children with long-standing cyanosis.

• Note any wheezing, nasal flaring, retractions, prominent neck veins, or head bobbing with respirations.

• Note also signs of peripheral or periorbital edema. Edema or puffiness around the eyes may be evident in an infant with CHF even in the absence of peripheral edema of the hands or feet. True pitting edema of the feet is an unusual finding in an infant with CHF.

• Measure and plot height and weight on standardized charts, including Down and Turner syndrome charts, at each assessment. Although many children with CHD fall within the normal ranges of height, weight, and development, a large number of infants and children with heart disease experience poor weight gain, less than normal linear growth, and delays in achieving developmental milestones.

Palpation

Palpate all five areas of the chest: the aortic, pulmonic, tricuspid, and mitral areas, and Erb’s point (Fig. 30-2). Chest palpation is best accomplished by using the open palm of the hand near the base of the fingers. The hand should be gently moved across the chest to assess abnormal precordial activity, including pulsations, lifts, heaves, or thrills, and to determine the location of the apical impulse. The apical impulse is used to determine the size of the heart and is the most lateral point at which cardiac activity can be palpated. In infants and children, the impulse is normally palpated at the apex of the heart in the fourth intercostal space just to the left of the midclavicular line. At approximately 7 years old, the point shifts to the fifth intercostal space. In the presence of cardiomegaly, the apical impulse is shifted laterally or downward.

• Thrills are a palpable vibration caused by turbulent blood flow through abnormal structures or defects in the heart. The turbulent flow may be due to valvular narrowing or stenosis or defects, such as VSD.

• Assess peripheral pulses (radial, brachial, carotid, dorsalis pedis, and posterior tibial) for amplitude and intensity. In COA, the examiner will note decreased or absent femoral pulses and impulse lag if the radial pulse is palpated simultaneously. A fast pulse rate may indicate arrhythmia or CHF.

• The liver and spleen should be assessed for enlargement. A liver more than 1 cm below the right costal margin in an older infant or child may indicate hepatomegaly and is an important finding. Infants may have a palpable liver edge as a normal finding.

• The back should be examined for scoliosis, a finding associated with enlarged hearts.

FIGURE 30-2 Traditional auscultatory areas for clicks and murmurs.

(Adapted from McConnell M, Adkins S, Hannon D: Heart murmurs in pediatric patients: when do you refer? Am Fam Pract 60[2]:558-565, 1999. © C Boyter, 1999.)

Auscultation of Heart Sounds

• The examiner should approach auscultation of the heart in the same manner for every child either beginning at the base or apex of the heart. Ideally, assess heart sounds in a quiet environment when the child is cooperative.

• Four individual heart sounds can be heard: S₁, S₂, S₃, and S₄. S₁ and S₂ represent normal heart sounds, whereas the presence of S₃ or S₄ may indicate cardiac enlargement or volume overload.

• At each area of examination, the provider should accurately identify the first (S₁) and second (S₂) heart sounds.

• S₁ has the following characteristics:

It is heard in the beginning of systole and indicates closure of AV valves (mitral and tricuspid).

It may be differentiated from early systolic clicks by the low frequency of the sound (clicks have a higher frequency). It is best heard with the diaphragm of the stethoscope.

It is usually loudest at the apex.

• S₂ has the following characteristics:

It is composed of the aortic (A₂) and pulmonic (P₂) components and marks the end of systole.

S₂ is normally split with inspiration because pulmonic valve closure lags behind aortic valve closure. S₂ becomes single with expiration.

S₂ is best assessed at the upper left sternal border in the pulmonic area.

Pulmonary hypertension causes early closure of P₂ and accentuation of S₂, which may sound like a loud, single second heart sound.

Absence of one of the semilunar valves (as in pulmonary atresia) causes single S₂.

Wide splitting of S₂ without becoming a single sound on expiration may indicate increased pulmonary flow (typical of ASD).

• S₃ and S₄ have the following characteristics:

S₃ is associated with rapid ventricular filling; it may be heard in a quiet infant or child with a rapid heart rate.

S₃ “gallop” is best heard at the apex with the bell of the stethoscope during early diastole. When combined with S₁ and S₂, it gives an impression of the word “Kentucky.” S₃ is easier to appreciate when the child is in the left lateral decubitus position.

S₄ is always pathologic; it represents increased force of atrial contraction and ventricular distention.

S₄ “gallop” sounds like the word “Tennessee.” It is best heard in late diastole just before S₁.

S₄ is low-pitched and is best heard at the apex with the bell of the stethoscope.

• Clicks: Ejection clicks are heard early in systole, immediately after S₁, and may sound like a split first heart sound. Pulmonic ejection clicks are high in frequency, vary with respiration, and disappear with inspiration. An aortic ejection click, heard best at Erb’s point, is constant in intensity with a sound of a “snap” or a “click.” Nonejection clicks are heard best in midsystole, or midway between S₁ and S₂ in the cardiac cycle at the apex. These clicks are best heard in patients who are leaning forward or standing, may disappear with inspiration, and are due to mitral valve prolapse (Park, 2008). Figure 30-2 describes cardiac conditions associated with each of these clicks.

Murmurs

Up to 80% of children may have a murmur, especially beginning at 3 to 4 years old (Park, 2008). It may be caused by normal blood flow through normal cardiac structures (innocent or physiologic murmur) or by turbulent blood flow caused by a defect or abnormal cardiac structures. Murmurs may be intensified by anything that increases cardiac output (e.g., anemia, fever, exercise).

Innocent or Functional Murmurs

Functional or innocent cardiac murmurs are common in children and can be evident in newborns. Table 30-5 describes common types of innocent murmurs; Box 30-3 describes the characteristics of an innocent murmur. Families and older children with innocent murmurs should be reassured that there is no cardiac pathology. They should be informed that this murmur may come and go and may be louder at times of fever, anxiety, pain, or exercise, and that activities do not need to be limited or any special precautions taken.

TABLE 30-5 Common Innocent Murmurs

BOX 30-3 Auscultatory Findings—The Innocent Versus Pathologic Murmur

Data from Lucas JF, Saul JP: Innocent murmurs. In Burg FD, Ingelfinger JF, Polin RA et al, editors: Current pediatric therapy, ed 18, Philadelphia, 2006, Saunders.

Criteria for Describing a Heart Murmur

Every murmur is assessed according to the criteria listed in Table 30-6. These are further illustrated and discussed in Figure 30-3. Characteristics of pathologic murmurs needing referral are listed in Box 30-3. The presence of a murmur causes great anxiety for a family awaiting a diagnosis. All murmurs should have a second opinion from a pediatric colleague or pediatric cardiologist if the diagnosis is uncertain or there is a suspicion of heart disease (Allen et al, 2008).

TABLE 30-6 Describing a Heart Murmur

Grade or intensity: • Does not necessarily indicate severity of the problem • May be altered with positional change from supine to sitting	Grade I: Barely audible; heard faintly after a period of attentive listeningGrade II: Soft but easily audibleGrade III: Moderately loud, no thrillGrade IV: Loud, presentGrade V: Loud, audible with stethoscope barely on the chestGrade VI: Heard without stethoscope (rare)
Timing with cardiac cycle	SystolicDiastolicContinuous
Location on chest where murmur is loudest	Aorticor pulmonic listening areas, URSB, ULSB, Erbs point, LLSB, apex
Radiations or transmission to other locations	To backTo apexTo carotids
Quality	MusicalHarsh blowing
Duration	Point of onset and length of time systole and diastole murmurs last (e.g., “early systole, heard throughout cardiac cycle”)
Pitch	LowMiddleHigh

LLSB, Left lower sternal border; ULSB, upper left sternal border; URSB, upper right sternal border.

FIGURE 30-3 Types of heart murmurs.

(Adapted from Allen HD, Gutgesell HP, Clark EB et al, editors: Moss and Adams’ heart disease in infants, children, and adolescents, including the fetus and young adult, ed 6, Philadelphia, 2001, Lippincott Williams & Wilkins, p 150.)

Common Diagnostic Studies

If the provider intends to refer for a cardiology consult, performing any of the following routine diagnostic studies is not cost-effective. The cardiology consultant will be able to determine with greater discrimination which, if any, tests should be ordered (Allen et al, 2008).

• Chest radiograph. Radiography provides the following information: cardiac size and size of specific chambers and great vessels, cardiac contour, status of pulmonary blood flow, and status of the lungs and other surrounding tissue (Fig. 30-4).

• ECG. ECG monitors the electrical activity of the heart from different locations and in different planes of the body. The ECG gives information about forces of ventricular contraction, hypertrophy, chamber dilation, and rhythm.

• Echocardiogram. Echocardiography uses reflected sound waves to identify intracardiac structures and their motion. The types of recordings include two-dimensional, M-mode, contrast, Doppler, and tissue Doppler studies (Fig. 30-5). Fetal echocardiography can diagnose CHD as early as 16 to 18 weeks’ gestation (high-frequency transvaginal echocardiography as early as 10 weeks’ gestation), as well as dysrhythmias and hemodynamic changes (Kleinman et al, 2008).

• Complete blood count (CBC). CBC rules out severe anemia or polycythemia as a cause of a murmur.

FIGURE 30-4 Chest radiogram of a 3-month-old with ventricular septal defect (VSD) and congestive heart failure (CHF). Cardiomegaly with increased pulmonary vascular markings from pulmonary venous congestion is visible.

FIGURE 30-5 Echocardiogram of a 2-year-old with an atrial septal defect (ASD).

Other diagnostic tests may include the following:

• Cardiac catheterization. An opaque catheter is introduced into the heart chambers via a large peripheral vessel. The cardiologist measures pressures and saturation in chambers and vessels and uses dye to outline anatomy. This provides information about cardiac output, vascular resistance, and the response of the heart to exercise and medications.

• Hyperoxia test. Supplementation of 100% oxygen results in “pinking” and increased arterial oxygen saturation when the disease is primarily pulmonary; minimal or no color improvement indicates that the disease is cardiac. More commonly, simple pulse oximetry saturations are used to evaluate for cyanosis.

• Magnetic resonance imaging (MRI). This technique uses a strong magnetic field to cause movement of nuclei to yield an image of the heart structures and information about chamber volumes and function.

• Exercise testing. A graded treadmill or bicycle ergometer is used to determine cardiac output (myocardial blood flow and rhythm) response to exercise for endurance and capacity measurement.

Management Strategies

Referral

If a provider suspects cardiac disease or is unsure about findings, it is best to refer the patient to a pediatric cardiologist if available. Findings suggestive of cardiac disease are the presence of cyanosis, symptoms of CHF, a pathologic murmur, or a murmur that is difficult to differentiate in the presence of poor growth and development. A murmur alone in a child who is otherwise doing well should be referred to a pediatric cardiologist for further evaluation in a timely but not urgent time frame (2 to 4 weeks). Newborns should be evaluated within 1 or 2 days of noticeable signs or immediately depending on the severity of their symptoms. An infant with suspected disease who has a murmur, symptoms of CHF, cyanosis, or poor feeding should be evaluated as soon as possible by a pediatric cardiologist. An older child with dizziness, chest pain with exertion, dysrhythmia, dyspnea, syncope, signs of CHF, or abnormal vital signs should also be referred as soon as possible.

Family Support

Families need the support of their PCP to help them understand the diagnosis, to cope with the short- and long-term consequences, and to advocate for them within the referral system, which may be an overwhelming experience. Because of the stress involved in initial diagnosis, many parents do not absorb all information presented and may need multiple opportunities to ask questions and learn about the diagnosis.

Parents and their designated support people should clearly understand the diagnosis and have diagrams of the defect and general information to take away with them for future reference. Should medication be necessary, parents should understand the reason for the drug and the regimen for administration and side effects. They should have a good understanding of the signs and symptoms of deterioration (e.g., CHF) and clear information regarding how to proceed should symptoms develop. Infant and child cardiopulmonary resuscitation certification is critical for anyone caring for a child with a heart condition.

Primary Health Care for Children with Cardiovascular Diseases

The goals of primary health care for a child with cardiovascular disease include the following:

• Adequate nutritional intake and optimal growth. Depending on the child’s condition, the family may need help in modifying the diet to provide maximum calories or limit various types of foods. The young infant with CHF may need 24, 27, or 30 kilocalories per ounce of formula or fortified breast milk. The child may also need a nasogastric or gastric tube to obtain adequate calories because he or she may be unable to suck adequately. Children with cyanotic conditions may initially have adequate weight gain. The provider should refer to a nutritionist if available for assistance with complex diets (see Chapter 10 for more detailed information).

• Optimal psychosocial development and functioning. Discuss with the family the need to treat the child as normally as possible. Direct parents to support groups that provide informational and emotional support for families. Provide support to siblings of the affected child as well. Poor sibling bonding and unexpressed fears and anger in young siblings toward an infant with a severe or chronic disease can affect their relationships and family dynamics for many years. A retrospective review of studies that pertained to the long-term psychological adjustment of children and adolescents following open heart surgery for CHD concluded that these survivors are at risk for psychological maladjustment and impaired health-related quality of life (Latal et al, 2009).

• Optimal preventive and primary health care. Live virus vaccines should be delayed until 6 to 7 months after cardiopulmonary bypass (and exposure to red blood cells and plasma) or immune globulin exposure (AAP, 2009). This most often affects 1-year-old infants who are due for varicella and measles, mumps, and rubella vaccines. Other vaccines can be given on a regular schedule. The AAP recommends provision of respiratory syncytial virus (RSV) prophylaxis for infants less than 2 years old who have cyanotic or complicated CHD. (Refer to the current AAP Red Book or Centers for Disease Control and Prevention [CDC] website for immunization schedule.)

• Prevention of avoidable complications. Prevention of respiratory infections through good handwashing and avoiding contact (if possible) with others with upper respiratory infection (URI) symptoms, should be emphasized. Vaccination against seasonal influenza is prudent.

• Prevention of infective endocarditis (IE). Although uncommon in children, IE (also called subacute bacterial endocarditis [SBE]) is associated with a high morbidity and mortality rate (discussed later in this chapter) and warrants primary prevention whenever indicated. Standards for prophylaxis against SBE are available in Box 30-4, and Tables 30-7 and 30-8). A high index of suspicion for IE should be maintained if any unusual clinical findings (e.g., petechiae, fever) are present after any procedure. Children with CHD appear to have more severe gingival inflammatory conditions, with a concomitant increase in Haemophilus species, Actinobacillus actinomycetemcomitans, Cardiobacterium hominis, Eikenella corrodens, and Kingella species (HACEK) and other microbes known to cause endocarditis compared with other children (Steelman et al, 2003). The reason for this is not clear. Good dental hygiene is extremely important for these patients.

• Optimal fitness. Reassure the parents that the child generally “self-limits” activity according to ability. The cardiology provider should be consulted regarding exercise limitations before entrance into sports or any activities that require strenuous physical exertion. Parameters for sports participation for children with various forms of cardiac diseases or conditions can be found in Chapter 13, Table 13-5.

• Optimal neurodevelopmental adaptation to school and life tasks. Several studies have shown relatively high incidences (up to 50%) of neurodevelopmental impairments in school-age children who had open heart surgery in infancy (Majnemer et al, 2008). Although mean intelligence scores are generally within the average range, many of these children have difficulties with visuospatial tasks, fine motor functions, higher order language skills, memory and attention. They may be impaired in their ability to coordinate lower-order skills to perform higher-order tasks. In one study, 25% of children who had neonatal heart surgery had developmental disabilities. A few studies show that there is brain injury and immature brain development in infants with CHD prior to heart surgery, presumably due to disordered fetal circulation (Miller el al, 2007).

BOX 30-4 Cardiac Conditions Associated With the Highest Risk of Endocarditis: Prophylaxis Recommended

Prophylaxis is recommended for individuals who have had:

Data from Nishimura RA, Carabello BA, Faxon DP et al: ACC/AHA 2008 guideline update on valvular heart disease: focused update on infective endocarditis. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines: endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons, Circulation 118:887-896, 2008.

TABLE 30-7 Procedures for Which Endocarditis Prophylaxis Is or Is Not Recommended in High-Risk Individuals

	Prophylaxis Recommended	Prophylaxis Not Recommended
Dental	Dental extractionsPeriodontal proceduresDental implant placement and reimplantation of avulsed teethRoot canal instrumentationInitial placement of orthodontic braces but not bracketsTeeth or implant cleaning where bleeding is expectedPostoperative suture removal	Restorative dentistryRoutine anesthetic injections through noninfected tissueIntracanal endodontic treatment; postplacement and buildupRubber dam placementPlacement of removable prosthodontic or orthodontic appliancesBleeding from trauma of lips or oral mucosaTaking oral impressionsFluoride treatmentsTaking oral radiographsOrthodontic appliance adjustment or placement of bracketsShedding of primary teeth
Respiratory tract	Tonsillectomy or adenoidectomySurgery involving respiratory mucosa	Endotracheal intubationFlexible bronchoscopy without biopsyPressure tympanostomy tube insertion/removalRigid bronchoscopy
Skin	Procedures involving infected skin or skin structures	Uncomplicated skin biopsyTattooing (but this is highly discouraged in high-risk individuals)
Musculoskeletal tissue	Procedures involving infectedmusculoskeletal tissue
Genitourinary tract	Cystoscopy or urinary tract manipulation in patients with enterococcal infection	Vaginal deliveryCesarean sectionUrethral catheterization without infectionTherapeutic abortionCircumcisionHysterectomy
Gastrointestinal tract		GI tract procedures including esophagogastroduodenoscopy or colonoscopy
Other procedures		Cardiac catheterization, including device placement and pacemakers

TABLE 30-8 Prophylactic Regimens for Dental Procedures ^*

Route	Agent	Regimen^†
Able to take oral medication	Amoxicillin	Adults: 2 g PO; children: 50 mg/kg PO (max 2 g)
Unable to take oral medication	Ampicillinor^‡	Adults: 2 g IM or IV; children: 50 mg/kg IM or IV (max 2 g)
Unable to take oral medication	Cefazolin or ceftriaxone	Adults: 1 g IM or IV; children: 50 mg/kg IM or IV (max 1 g)
If penicillin allergic, oral	Clindamycinor^‡	Adults: 600 mg PO; children: 20 mg/kg PO (max 600 mg)
	Cephalexin or cefadroxilor	Adults: 2 g PO; children: 50 mg/kg PO (max 2 g)
	Azithromycin or clarithromycin	Adults: 500 mg PO; children: 15 mg/kg PO (max 500 mg)
Penicillin allergic and unable to take oral medication	Clindamycinor^‡	Adults: 600 mg IM or IV; children: 20 mg/kg IM or IV (max 600 mg)
Penicillin allergic and unable to take oral medication	Cefazolin or ceftriaxone	Adults: 1 g IM or IV; children: 50 mg/kg IM or IV (max 1 g)

IM, Intramuscular; IV, intravenous; max, maximum, PO, orally.

* Antibiotic regimens are procedure specific; refer to the American Heart Association reference for nondental prophylaxis recommendations.

† Take 30-60 minutes prior to the procedure.

‡ Or other first- or second-generation oral cephalosporin in equivalent adult or pediatric dosage. Cephalosporins should not be used if there is a history of anaphylaxis, angioedema, or urticaria with penicillins.

Data from Nishimura RA, Carabello BA, Faxon DP et al: ACC 2008 guideline update on valvular heart disease: focused update on infective endocarditis. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines: endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons, Circulation 118:887-896, 2008.

Congenital Heart Diseases

Congestive Heart Failure

CHF refers to a progressive clinical and pathophysiologic syndrome found in many children with heart problems. The symptoms vary with age of the child and the root cardiac problem. Box 30-5 provides information on age specific signs and symptoms of CHF. Besides functional changes, CHF is marked by changes in neurohormonal and molecular changes within the heart (Hsu and Pearson, 2009a).

CHF in children can be caused by congenital malformations leading to volume overload (such as a large VSD) or pressure overload (such as AS) or more complex heart disease. CHF can also occur in children with structurally normal hearts due to cardiomyopathy or secondary to dysrhythmias, ischemia, toxins, or infections (Table 30-9). These conditions are discussed in more detail later in this chapter. One set of authors estimate CHF affects 12,000 to 35,000 children each year (Hsu and Pearson, 2009a).

TABLE 30-9 Conditions That Can Lead to Congestive Heart Failure in Children

Age	Condition
Premature infant	Patent ductus arteriosus
Birth to 1 week	Hypoplastic left heart syndrome
	Coarctation of the aorta
	Critical aortic stenosis
	Interrupted aortic arch
	Arteriovenous malformations
	Tachycardia
	Cardiomyopathy
1 week to 3 months	Ventricular septal defect
	Truncus arteriosus
	Atrioventricular canal (endocardial cushion defect)
	Total anomalous pulmonary venous return
	Coarctation
	Tachycardia
	Patent ductus arteriosus
	Aortic stenosis
	Tricuspid atresia
Older than 1 year	Bacterial endocarditis
	Rheumatic fever
	Myocarditis

The largest group of infants and children with CHF are those with excessive left to right shunting through unrepaired congenital defects. CHF is somewhat of a misnomer in these cases, as the myocardium generally responds quite well to the challenge of excessive blood volume for a long time and cardiac output remains adequate. However, the compensatory response to this excessive workload does provoke electrolyte and fluid imbalances as well as a host of other neurohormonal changes. Children with heart failure from systolic or diastolic cardiac dysfunction from infections, obstruction, or dysrhythmia need treatment to ameliorate fluid and electrolyte imbalances, increase contractility, and decrease cardiac afterload.

A greater understanding of the underlying neurohormonal mechanisms of CHF has been detailed and aided by therapies in the adult population. Depending on the underlying pathophysiology, the same patterns of elevated neurohormonal and inflammatory mediators (aldosterone, norepinephrine, natriuretic peptides, tumor necrosis factor, and renin) occur in children. In adult populations large-scale studies have shown the value of blocking some of the chronic neurohormonal changes to CHF with agents such as aldosterone inhibitors, angiotensin inhibitors, and sympathetic inhibitors (beta-blockers). To date, however, no large-scale pediatric study has been able to show positive effects with this change in CHF therapeutic focus. However, based on adult evidence and some small pediatric studies, the International Society of Heart and Lung Transplantation recommended angiotensin-converting enzyme (ACE) inhibitors for moderate to severe left ventricular dysfunction (Hsu and Pearson, 2009b). The traditional armamentarium of heart failure therapies (i.e., diuretics, inotropes, and afterload reducers) is likely to be added in the future after further elucidation of the neurohormonal responses in children with the different conditions listed in Table 30-9. The role of monitoring B natriuretic peptides (amino acid polypeptides secreted by the ventricles in response to stretching) in managing CHF is also evolving.

Left-to-Right Shunting Congenital Heart Disease (Acyanotic)

Pulmonary overflow lesions have a communication between the two sides of the heart through which extra blood shunts from the high-pressure, oxygenated left side of the heart to the low-pressure, deoxygenated right side of the heart. The result is an increase in pulmonary blood flow (Fig. 30-6). These lesions are acyanotic in nature. Table 30-10 illustrates the distinguishing features of left-to-right versus right-to-left shunting disorders.

FIGURE 30-6 Classification of congenital heart disease (CHD).

TABLE 30-10 Congenital Heart Disease: Differential Diagnosis of Cardiac Defects

Atrial Septal Defect

Description and Epidemiology

An ASD is a defect or hole in the atrial septum. Of the four types of ASD, the most common involves the midseptum in the area of the foramen ovale and is called an ostium secundum–type defect (Fig. 30-7). Defects of the sinus venosus type are high in the atrial septum, near the entry of the SVC, and are frequently associated with anomalous pulmonary venous return. A primum ASD is in the lower portion of the septum and is most often seen in children with Down syndrome. The rarest form of ASD is an unroofed coronary sinus (see Table 30-10 for incidence figures). Usually ASDs occur spontaneously; however, there are a few identified genetic mutations which cause familial ASDs (Porter and Edwards, 2008).