History and Physical Examination
Steven C. Cassidy
Hugh D. Allen
John R. Phillips
Audios provided by Dr. William Buck Kyle
Despite the availability of advanced imaging technologies, a thorough history and physical examination are the core of evaluating children with suspected heart disease. Although the basics of obtaining a history and physical examination are similar in all patients, this chapter emphasizes specific issues when evaluating a child with possible cardiac pathology.
History
To obtain an accurate history, it is important to establish rapport with the patient and parents. Meetings are often short and first impressions are lasting, so the first encounter is critical. The examiner should sit and carefully listen to the details provided by the patient and parents. The history is the predominant vehicle that defines the first encounter. Many aspects of the history are age specific. Therefore, historical information should be elicited from the patient, as age and maturity allow, and from the parents as observers.
Parents often research their child’s illnesses on the Internet or through the media and may come to a visit with preconceived notions and, perhaps, opinionated or anecdotal information. The examiner must be prepared for this and discuss the patient’s condition in a nonconfrontational and open manner. In that way, an honest and positive patient–physician relationship will be established.
Newborns and Infants
Congenital heart disease often presents in early infancy because of observed abnormalities in the appearance or behavior of the infant. Because an infant’s primary physical exertion is eating, a thorough feeding history should be obtained. If the mother has had previous children, she may offer insight into differences in feeding habits between the patient and her other children. The feeding history should be as quantitative as possible. Frequency of feeding, volume of milk or formula (and type of formula, especially regarding kcal/oz information) consumed, and the length of time to finish a feeding should be obtained for both bottle- and breastfed infants. Most newborns feed 2 to 3 oz every 2 to 3 hours. It is common for children with congestive heart failure to take breaks during a feeding because of rapid breathing or to fall asleep during feeding only to awaken after a few minutes and feed a small amount again. Generally, normal infants should be able to complete their feeding in <30 minutes. A longer time to finish each feeding, low volume consumed, excessive diaphoresis, and increased work of breathing during feeding are signs of heart failure or poor cardiac output. As pulmonary vascular resistance declines over the first 4 to 6 weeks of life, irritability and fussiness with feeding may indicate angina and ischemia in a child with an anomalous left coronary artery from the pulmonary artery. This is often confused with colic or reflux.
The presence of cyanosis should be determined. Cyanosis may be central or peripheral. Central cyanosis, which reflects true arterial desaturation, is characterized by blueness of the tongue and oral mucosa. Central cyanosis is most likely related to cardiac or respiratory disease. Children in shock also may appear cyanotic owing to venous stasis, right-to-left intrapulmonary shunting, or increased peripheral oxygen extraction. Acrocyanosis, or blueness of the hands and feet related to skin temperature, is normal. Similarly, blueness of the skin around the mouth or other parts of the face can often be attributed to alterations in skin blood flow or vasomotor instability, and should be considered to be a normal variant. Cyanosis may be more difficult to recognize in the anemic patient, because with decreased hemoglobin, similar levels of desaturation may not produce sufficient quantities of reduced hemoglobin (>5 g/%) to be clinically apparent.
If there has been observed cyanosis, it is important to distinguish between constant cyanosis and episodic cyanosis. In most forms of cyanotic congenital heart disease, cyanosis is constant. Constant cyanosis should suggest the presence of congenital heart disease with hypoxemia related to transposition physiology, inadequate pulmonary blood flow, or intracardiac mixing. Episodic cyanosis may be due to hypoxemia related to hypercyanotic episodes from tetralogy of Fallot physiology (see Chapter 41). This can occur in tetralogy of Fallot, in some patients with double-outlet right ventricle, or in patients who have subpulmonic stenosis associated with a univentricular circulation.
Differential cyanosis of the upper and lower body in a newborn, although much less common, can also be an important finding. Lower body cyanosis with a pink upper body suggests right-to-left shunting at the level of the ductus arteriosus, seen in patients with persistent pulmonary hypertension of the newborn. Upper body cyanosis with pink lower extremities may indicate transposition of the great arteries with an aortic arch obstruction. In this circumstance, the lower body is perfused by the ductus arteriosus carrying pulmonary venous blood via the left ventricle to the pulmonary artery then to the descending aorta.
The parent or caregiver’s observation of the infant’s breathing patterns should be documented. Unlabored (“happy”) tachypnea often accompanies cyanotic heart disease, whereas increased work of breathing and sometimes grunting are associated with left-sided
obstructive lesions or respiratory illness. Grunting with closure of the glottis provides positive end-expiratory pressure and is seen in infants who have pulmonary edema. Parents may also observe intercostal or subcostal retractions when the child is undressed. If the infant has been symptomatic from birth, some first-time parents may not recognize mild respiratory symptoms such as tachypnea.
obstructive lesions or respiratory illness. Grunting with closure of the glottis provides positive end-expiratory pressure and is seen in infants who have pulmonary edema. Parents may also observe intercostal or subcostal retractions when the child is undressed. If the infant has been symptomatic from birth, some first-time parents may not recognize mild respiratory symptoms such as tachypnea.
Finally, newborns and infants who have heart diseases may have diaphoresis. This can occur during feedings or during sleep. Diaphoresis in this circumstance generally indicates activation of the sympathetic nervous system in patients who have low cardiac output.
The time at which signs and symptoms of heart disease begin may be a clue to the type of cardiac lesion. Commonly, murmurs detected early in the neonatal period originate from atrioventricular valve regurgitation or semilunar valve stenosis. Most newborns with acyanotic congenital heart disease are asymptomatic at birth. As the transition from fetal to postnatal circulation is completed, symptoms specific to the physiology of the defect become evident. For example, ductal-dependent left-sided obstructive lesions usually present in the first week of life as the ductus arteriosus closes, resulting in markedly decreased cardiac output and signs of shock. On the other hand, children with significant left-to-right shunt lesions typically are asymptomatic until 4 weeks of age or later, when pulmonary vascular resistance decreases to near adult levels and pulmonary overcirculation ensues. This may also be the first time a murmur is heard.
Toddlers and Preschoolers
Toddlers and preschoolers, like infants, are generally unable to give the examiner a true subjective history, so again, history in this age group is largely observational. Symptoms may be somewhat nonspecific. Again, feeding and breathing symptoms should be sought. As children become more physically active, parents may observe inability of children in this age group to sustain physical activity. Parents can be questioned regarding comparisons of these patients to siblings and age-mates about sustaining play or physical activity. Growth and developmental history is also important at this age. As they approach school age, children can sometimes voice subjective complaints, but often this is simplified to what the parent concludes is chest discomfort.
Older Children and Adolescents
As childhood progresses through school age and adolescence, the primary historian should be the patient. The parents should be asked additional pertinent historical and observational information. Adolescents should have the right to speak privately, especially about drug use, sexual behavior, and other personal matters. A clinician should not betray their confidentiality and should not divulge to others the information revealed in confidence.
Older children and adolescents can be questioned much like adults regarding cardiovascular symptoms. Recognize, however, that children with congenital heart disease may be symptomatic from birth and therefore may not experience a change in symptoms, as would a previously healthy adult with acquired heart disease. Older children and adolescents should be specifically questioned about their ability to tolerate exercise and physical activity. This may include the ability to participate in recreational activity and sports, but should also include activities of daily living such as walking or stair climbing. Shortness of breath with activity should be noted. Cyanosis with physical activity may indicate persistence or new appearance of a cardiac right-to-left shunt.
In older patients, a sleep history should be sought. Older patients may have paroxysmal nocturnal dyspnea or orthopnea with congestive heart failure. One should inquire about the patient’s comfort when lying supine in bed, and if they require sleeping with elevation of the head by more than one pillow. Nocturnal awakening and shortness of breath can occur in heart failure with postural redistribution of edema fluid, particularly if there is pulmonary vein or mitral stenosis.
Palpitations are a common complaint in older children, and it is most helpful to have the subjective description of the symptomatic events from the patient. The patient may describe transient or sustained sensation of an abnormal heartbeat, ranging from the sensations of the heart “skipping a beat” to the sensation of the heart beating hard or fast. The details of the symptoms should be carefully teased out to determine the circumstances in which they occur (e.g., rest vs. exercise), the frequency and duration of the complaint, and any associated symptoms such as fatigue, shortness of breath, or chest pain. It is often helpful to ask the parent about the appearance of the patient during these symptoms, specifically asking about pallor, breathing, and diaphoresis.
Chest pain at rest is a common complaint in adolescents and is generally noncardiac in nature. Again, in this circumstance, a subjective history is most helpful. The examiner should inquire about the nature of the pain, as well as its location, and duration. The examiner should ask the patient whether the pain is affected by breathing movements, cough, or arm and shoulder movements. Any other exacerbating or alleviating maneuvers should be sought. Chest pain with exercise should be questioned. Although chest pain with exercise is commonly associated with adult coronary disease, it is uncommonly associated with congenital heart disease. Exercise-induced chest pain may be found in patients with diseases resulting in significant left ventricular hypertrophy, congenital coronary artery abnormalities, coronary abnormalities associated with Kawasaki syndrome, or can be due to noncardiac conditions such as exercise-induced bronchospasm.
Syncope is another symptom that is a frequent reason for cardiology referral and may be due to a cardiac cause. When a patient presents with syncope as a complaint, the circumstances of the event and presyncopal symptoms are of greatest importance. Patients should be asked to describe where they were, what they were doing, and how they felt at the time of the event. Most postural syncope will occur when the patient is upright, generally standing. Often it occurs in a warm environment after a period of prolonged standing, but may also occur in some upon standing quickly from a sitting or supine position or while standing after a period of intense exercise. Dizziness or light-headedness, visual changes, feeling hot, or nausea often precede postural syncope. The examiner should inquire about presence of these presyncopal symptoms at other times when the patient has not lost consciousness. Additional information that may be helpful includes the patient’s daily intake of fluids and caffeine. Syncope without prodrome should be considered more significant for the possibility of a sudden severe arrhythmia.
Some patients may complain about edema, or swelling, although it is less commonly related to congenital heart disease in children and adolescents. The location of this edema is dependent upon the predominant posture of the individual. Patients who are upright much of the time may complain of swelling of their feet and ankles or of shoes that are tight at the end of the day. Younger patients who are supine much of the time may have sacral edema or puffiness of the face and eyelids.
Past Medical and Surgical History
The past medical history should include documentation of significant illnesses, previous hospitalization, previous operations, immunization status, and symptoms of poor growth as an infant. A detailed catalogue of previous cardiac and cardiothoracic procedures should be documented, including catheterizations, catheter interventions, and cardiac surgeries. The examiner should ask about the presence of other congenital anomalies and syndromes
that may be associated with heart disease. Other illnesses and chronic conditions, immunization history, and allergies should be queried and documented.
that may be associated with heart disease. Other illnesses and chronic conditions, immunization history, and allergies should be queried and documented.
Prenatal and Birth History
When evaluating a newborn for the first time, it is important to obtain details about the pregnancy. Details of the maternal health during pregnancy should be obtained, including maternal illnesses, medications, toxic exposures, and pregnancy-related complications. The infant of a mother with gestational diabetes, for example, has an increased risk of cardiac defects. Similarly, the relationship between maternal lupus and congenital heart block is well recognized. Maternal exposure to teratogens associated with cardiac defects (Table 9.1) should be part of the prenatal history (see Chapters 4 and 5). Smoking during pregnancy has been linked to small-for-gestational-age newborns but not specific cardiac defects. Congenital infections may lead to specific types of cardiac diseases. One example is rubella, which has been associated with patent ductus arteriosus and pathologic peripheral pulmonary stenosis. The use of illicit drugs may indicate an increased risk for human immunodeficiency virus infection, which has been associated with infantile cardiomyopathy. The age of the mother is important to determine her risk for offspring with chromosomal abnormalities such as trisomy 21. Complications such as toxemia, birth asphyxia, fetal distress, and low birth weight may result in perinatal insult to the myocardium, leading to a generalized cardiomyopathy. The gestational age and birth history, including perinatal monitoring, method of delivery, and infant’s Apgar scores, should be noted, and cyanosis, color, and perfusion status should be assessed.
Family History
A family history of relatives, especially siblings, born with heart defects indicates a higher than normal risk of congenital heart defects. For a couple that has already had a child with a left-sided obstructive lesion (i.e., hypoplastic left heart syndrome), the risk of congenital heart defects in subsequent children is increased. In most centers, a history of siblings with significant congenital heart lesions would prompt a referral to a pediatric cardiologist for a detailed fetal echocardiogram. A complete family history also should include the presence or absence of syndromes associated with congenital heart disease such as Marfan syndrome, Holt–Oram syndrome, long QT syndrome, and idiopathic sudden death. A positive family history for these diseases may warrant screening of other family members.
In the family history, one should identify the presence of premature myocardial infarction and hypercholesterolemia that may prompt lipid profile screening. The presence of congenital heart diseases in family members, and valve abnormalities such as bicuspid aortic valve should be determined. Heritable conditions such as hypertrophic cardiomyopathy should be specifically questioned. As in the infant, a family history of idiopathic sudden death in a close relative should prompt careful evaluation of the patient’s QTc interval on a surface electrocardiogram.
TABLE 9.1 Common Teratogens and their Associated Cardiac Defects | ||||||||||||
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Review of Systems, Social History
A review of systems and social history should include specific information regarding the patient’s eating and exercise habits. School performance and sports participation should be assessed. A careful respiratory review of systems should be obtained. The clinician should make a private interview available to the adolescent. A history of tobacco and illicit drug use can then be determined. A discussion of personal habits gives the examiner an opportunity to advise about risk factors for coronary artery disease. This information is pertinent to the cardiac evaluation and aids in building the patient–physician relationship.
Physical Examination
Preparation and Strategy
We will now discuss the parts of the cardiac physical examination, including assessment of vital signs, inspection, palpation, percussion, and auscultation. Before the clinician proceeds with the examination, the patient should undress. The child may be covered with a blanket or wear a medical examination gown. The privacy and modesty of older children and adolescents must be respected. A staff member chaperone should be present during the examination of a patient of the opposite sex. Every child is different, so each examination must be individualized to be successful. The examiner must wash his or her hands or use sanitizing hand gel while being observed by the patient and parents doing so.
For the physician to perform a successful examination, the patient must be quiet and cooperative. This requires tact, patience, and innovation on the part of the examiner. If the infant is happiest in the mother’s lap, then he or she should be allowed to stay there. The mother should feed or play with the child during inspection or palpation. The order of the examination can be adjusted based on cooperation to obtain the most information. For example, if the child is asleep, auscultation should be performed before palpation. In anxious toddlers and infants, often it is useful to auscultate before palpating, and any supine examination should be left for last. Toddlers can be examined through a combination of distraction and play. Older children can be approached in a more traditional “head-to-toe” approach used in adult patients.
The clinician should develop a routine (and stay with it) for listening to heart sounds so that each portion of the cardiac cycle is examined at several locations. At each location, it is important to focus on one sound or one interval at a time, in a systematic and consistent way. Most examiners start at the apex and work to the left lower and left upper sternal borders, then right upper sternal border. The clinician should be sure to auscultate the left subclavicular area, both axillae, the liver, the head, and the back. At each location, one must listen to the first heart sound, throughout systole, the second heart sound, and throughout diastole.
Equipment
There are several choices in stethoscope design, and choice of the best stethoscope is personal. Some advocate single tubing, whereas others prefer double-tubed devices. Some of the newer digital
stethoscopes are quite useful, but may not accurately reproduce heart sounds as heard with an unamplified stethoscope. Whichever the instrument, the tubing must be intact, relatively short, and of sufficient bore. The earpieces must fit comfortably into the examiner’s ears, and should be chosen to completely seal in the examiner’s ears to reduce interference from ambient noise. Chest pieces vary in size. Larger diaphragms on adult stethoscopes may make localization of heart sounds more difficult, but it is possible to use a larger diaphragm by placing only a portion of the diaphragm on the chest wall. Chest pieces with a diaphragm and bell are essential to evaluate both high- and low-frequency sounds, respectively. In infants and small children, it is possible to hear high-frequency sounds by pressing on the bell, thereby creating a diaphragm with the skin. The examiner should become accustomed to his or her personal stethoscope and how it transmits heart and lung sounds.
stethoscopes are quite useful, but may not accurately reproduce heart sounds as heard with an unamplified stethoscope. Whichever the instrument, the tubing must be intact, relatively short, and of sufficient bore. The earpieces must fit comfortably into the examiner’s ears, and should be chosen to completely seal in the examiner’s ears to reduce interference from ambient noise. Chest pieces vary in size. Larger diaphragms on adult stethoscopes may make localization of heart sounds more difficult, but it is possible to use a larger diaphragm by placing only a portion of the diaphragm on the chest wall. Chest pieces with a diaphragm and bell are essential to evaluate both high- and low-frequency sounds, respectively. In infants and small children, it is possible to hear high-frequency sounds by pressing on the bell, thereby creating a diaphragm with the skin. The examiner should become accustomed to his or her personal stethoscope and how it transmits heart and lung sounds.
Different types of manometers have been developed for blood pressure measurement. Although many hospitals are phasing out mercury manometers, they have been the most accurate tools for blood pressure measurement. Aneroid sphygmomanometers are the next most reliable, and are more commonly available. Although automated instrument (such as Dinamap) pressures are easy to obtain, these measurements are reliable only in quiet cooperative patients, and diastolic pressures are often unreliable. It is best to develop the skill of obtaining manual blood pressure for greatest reliability. A range of blood pressure cuffs of different sizes should be available so that infants through adults can be assessed.
A pulse oximeter has become a standard piece of equipment for noninvasive screening of a patient’s oxygen saturation using photoplethysmography. There are several varieties of these devices from larger units to portable devices that clip on a fingertip. These devices should be kept in a well-maintained state and calibrated per manufacturer’s recommendations.
Vital Sign Assessment
Heart rate, respiratory rate, and blood pressure are vital to a complete cardiac examination. They should be assessed at each visit.
Heart Rate and Respiratory Rate
The importance of changes in heart rate and respiratory rate are noted throughout this chapter. Often, changes in heart rate and respiratory rate are the first harbingers of myocardial dysfunction, pulmonary congestion, or arrhythmia, even before changes in blood pressure occur. Respiratory rate should be counted with the patient unaware that it is being done, and preferably while sleeping in infants. Postural changes in heart rate and blood pressure should be determined in patients with postural dizziness or syncope.
Blood Pressure Measurement
On the initial visit, blood pressures should be measured in both upper extremities and at least one lower extremity. The standard technique for measuring blood pressure should be used. First, the length of the bladder of the cuff should be 80% of the circumference of the limb, and the width of the cuff should cover at least two-thirds of the length of the extremity. If only the arm pressure is to be measured, the patient should be sitting. Finally, to obtain an accurate measurement, the cuff should be deflated slowly. Care should be taken to not compress the artery with the head of the stethoscope. Listening to the brachial or popliteal arteries yields the Korotkoff sounds that are used; first and fifth are now the standard. For comparison between upper and lower extremities, it is best to obtain both while the patient is supine. If the sounds cannot be heard, systolic pressure can be obtained by palpating the first pulsation of an artery distal to the cuff or by using a handheld Doppler probe over the distal artery as the cuff is deflated. Another alternative, especially helpful in uncooperative infants, is using the flush technique. This is done by manually blanching the hand or foot, inflating the blood pressure cuff, releasing the hand or foot, and slowly deflating the cuff until intense redness is seen in the previously pale extremity, estimating mean arterial pressure. Serial upper and lower body blood pressure measurements are important for following patients with coarctation of the aorta and other aortic arch anomalies.
Pulse Oximetry Screening
Pulse oximeter saturation measurement has become routine and has often become considered to be a fifth vital sign. It has been shown that in newborn infants, early mild desaturation detected by screening pulse oximetry may allow earlier detection of critical congenital heart diseases (1,2), potentially leading to earlier treatment and decreased morbidity and mortality from significant congenital heart disease. This also may prove to be a cost-effective tool for screening. It has been recommended that spot check of pulse oximeter saturation be performed in every newborn in both upper and lower extremities after 24 hours of life prior to hospital discharge, with 95% accepted as lower limit of normal (3). If a newborn fails to maintain oxygen saturation >95%, further screening would be planned, including echocardiography. Newborn pulse oximetry screening has become standard of care for screening for severe congenital heart diseases in newborns. Pulse oximetry is also used as a tool to follow the degree of cyanosis in patients known to have cyanotic heart diseases, and is followed serially at visits. Serial measurement of oxygen saturation in patients with acyanotic heart diseases is not necessary.
Growth Parameters
Height, weight, and head circumference should be measured in all patients, and serially tracked and plotted on growth charts at subsequent visits. Patients who have heart disease may have difficulty with weight gain or linear growth. Generally, head circumference is spared in all but the sickest patients. Newborns and young infants should establish which percentile curve that their growth parameters will follow. Falling consistently through percentiles or a plateau in growth of any of the parameters should be considered significant. After repair of a hemodynamically significant heart problem, infants often have a reassuring period of “catch-up” growth.
General Appearance
The physical examination actually starts at first contact, as soon as the room is entered. The examiner should take advantage of the time while interviewing the parent to observe the child. Each patient should be inspected for general appearance, nutritional status, dysmorphic features, color, and comfort. A thorough inspection often will clue the examiner to the cause and severity of an illness. The child’s general appearance and comfort should be noted. Is the child fussy or playful? Is he or she well nourished? Are dysmorphic features or chromosomal abnormalities present? As discussed elsewhere in the text, specific cardiac lesions will accompany specific syndromes. The child’s breathing pattern should be observed. Patients with severe heart failure, pulmonary edema, or pericardial restriction (tamponade, constrictive pericarditis) are more comfortable sitting up. Forcing such a patient into the supine position may result in respiratory failure. Patients should be allowed to determine the position in which they are most comfortable. The child’s activity level, including feeding in infants, may be observed. In the infant, feeding constitutes exercise, which may elicit increased work of breathing, tachypnea, or diaphoresis.
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