As in the evaluation of any other system, history taking is a basic step in cardiac evaluation. Maternal history during pregnancy is often helpful in the diagnosis of congenital heart disease (CHD) because certain prenatal events are known to be teratogenic. Past history, including the immediate postnatal period, provides more direct information relevant to the cardiac evaluation. Family history also helps link a cardiac problem to other medical problems that may be prevalent in the family. Box 1-1 lists important aspects of history taking for children with potential cardiac problems.
Gestational and Natal History
Infections, medications, and excessive alcohol intake may cause CHD, especially if they occur early in pregnancy.
1. Maternal rubella infection during the first trimester of pregnancy commonly results in multiple anomalies, including cardiac defects.
2. Infections by cytomegalovirus, herpesvirus, and coxsackievirus B are suspected to be teratogenic if they occur in early pregnancy. Infections by these viruses later in pregnancy may cause myocarditis.
3. Human immunodeficiency virus infection (in illicit drug users) has been associated with infantile cardiomyopathy.
Medications, Alcohol, and Smoking
1. Several medications are suspected teratogens.
a. Amphetamines have been associated with ventricular septal defect (VSD), patent ductus arteriosus (PDA), atrial septal defect (ASD), and transposition of the great arteries (TGA).
b. Anticonvulsants are suspected of causing CHD. Phenytoin (Dilantin) has been associated with pulmonary stenosis (PS), aortic stenosis (AS), coarctation of the aorta (COA), and PDA. Trimethadione (Tridione) has been associated with TGA, tetralogy of Fallot (TOF), and hypoplastic left heart syndrome (HLHS).
c. Angiotensin-converting enzyme (ACE) inhibitors (captopril, enalapril, lisinopril) and angiotensin II receptor antagonists (losartan) taken during the first trimester have been reported to cause congenital malformations of multiple systems, including cardiac defects (e.g., ASD, VSD, PDA, and PS).
d. Lithium has been associated with Ebstein’s anomaly.
e. Retinoic acid may cause conotruncal anomalies.
f. Valproic acid may be associated with various heart defects such as ASD, VSD, AS, pulmonary atresia with intact ventricular septum, and COA.
g. Other medications suspected of causing CHD (VSD, TOF, TGA) include progesterone and estrogen.
2. Excessive alcohol intake during pregnancy has been associated with VSD, PDA, ASD, and TOF (fetal alcohol syndrome).
3. Although cigarette smoking has not been proved to be teratogenic, it does cause intrauterine growth retardation.
BOX 1-1 Selected Aspects of History Taking
Gestational and Natal History
Infections, medications, excessive smoking, or alcohol intake during pregnancy
Postnatal, Past and Present History
Weight gain, development, and feeding pattern
Cyanosis, “cyanotic spells,” and squatting
Tachypnea, dyspnea, puffy eyelids
Frequency of respiratory infection
Congenital heart defect
Sudden unexpected death
Diabetes mellitus, arteriosclerotic heart disease, hypertension, dyslipidemia, and so on
1. There is a high incidence of cardiomyopathy in infants born to mothers with diabetes. In addition, these babies have a higher incidence of structural heart defects (e.g., TGA, VSD, PDA).
2. Maternal lupus erythematosus and mixed connective tissue disease have been associated with a high incidence of congenital heart block in offspring.
3. The incidence of CHD increases from about 1% in the general population to as much as 15% if the mother has CHD even if it is postoperative (see Table A-2 in Appendix A).
Birth weight provides important information about the nature of the cardiac problem.
1. If an infant is small for gestational age, it may indicate intrauterine infections or use of chemicals or drugs by the mother. Rubella syndrome and fetal alcohol syndrome are typical examples.
2. Infants with high birth weight, often seen in offspring of mothers with diabetes, show a higher incidence of cardiac anomalies. Infants with TGA often have birth weights higher than average; these infants have cyanosis.
Weight Gain, Development, and Feeding Pattern
Weight gain and general development may be delayed in infants and children with congestive heart failure (CHF) or severe cyanosis. Weight is affected more significantly than height. If weight is severely affected, physicians should suspect a more general dysmorphic condition. Poor feeding of recent onset may be an early sign of CHF in infants, especially if the poor feeding is the result of fatigue and dyspnea.
Cyanosis, “Cyanotic Spells,” and Squatting
The presence of cyanosis should be assessed. If the parents think that their child has cyanosis, the physician should ask them about the onset (e.g., at birth, several days after birth), severity of cyanosis, permanent or paroxysmal nature, parts of the body that were cyanotic (e.g., fingers, toes, lips), and whether the cyanosis becomes worse after feeding. Evanescent acrocyanosis is normal in neonates.
A “cyanotic spell” is seen most frequently in infants with TOF and requires immediate attention, although it has become less frequent because most surgical repairs are done in early infancy. Physicians should ask about the time of its appearance (e.g., in the morning on awakening, after feeding), duration of the spells, and frequency of the spells. Most important is whether infants were breathing fast and deep during the spell or were holding their breath. This helps differentiate between a true cyanotic spell and a breath-holding spell.
The physician should ask whether the child squats when tired or has a favorite body position (e.g., knee–chest position) when tired. Squatting strongly suggests cyanotic heart disease, particularly TOF. Fortunately, squatting is extremely rare now with early surgical repair of cyanotic CHDs.
Tachypnea, Dyspnea, and Puffy Eyelids
Tachypnea, dyspnea, and puffy eyelids are signs of CHF. Left-sided heart failure produces tachypnea with or without dyspnea. Tachypnea becomes worse with feeding and eventually results in poor feeding and poor weight gain. A sleeping respiratory rate of more than 40 breaths/min is noteworthy. A rate of more than 60 breaths/min is abnormal even in a newborn.
Wheezing or persistent cough at night may be an early sign of CHF. Puffy eyelids and sacral edema are signs of systemic venous congestion. Ankle edema, which is commonly seen in adults, is not found in infants.
Frequency of Respiratory Infections
Congenital heart diseases with large left-to-right shunt and increased pulmonary blood flow predispose to lower respiratory tract infections. Frequent upper respiratory tract infections are not related to CHD, although children with vascular rings may sound as if they have a chronic upper respiratory tract infection.
Decreased exercise tolerance may result from any significant heart disease, including large left-to-right shunt lesions, cyanotic defects, valvular stenosis or regurgitation, and arrhythmias. Obese children may be inactive and have decreased exercise tolerance in the absence of heart disease. A good assessment of exercise tolerance can be obtained by asking the following questions: Does the child keep up with other children? How many blocks can the child walk or run? How many flights of stairs can the child climb without fatigue? Does the weather or the time of day influence the child’s exercise tolerance?
With infants who do not walk or run, an estimate of exercise tolerance can be gained from the infant’s history of feeding pattern. Parents often report that the child takes naps; however, many normal children nap regularly.
If a heart murmur is the chief complaint, the physician should obtain information about the time of its first appearance and the circumstances of its discovery. A heart murmur heard within a few hours of birth usually indicates a stenotic lesion (AS, PS), atrioventricular (AV) valve regurgitation, or small left-to-right shunt lesions (VSD, PDA). The murmur of large left-to-right shunt lesions, such as VSD or PDA, may be delayed because of slow regression of pulmonary vascular resistance. In the case of stenotic lesion, the onset of the murmur is not affected by the pulmonary vascular resistance, and the murmur is usually heard shortly after birth. A heart murmur that is first noticed on a routine examination of a healthy-looking child is more likely to be innocent, especially if the same physician has been following the child’s progress. A febrile illness is often associated with the discovery of a heart murmur.
Chest pain is a common reason for referral and parental anxiety. If chest pain is the primary complaint, the physician asks whether the pain is activity related (e.g., Do you have chest pain only when you are active, or does it come even when you watch television?). The physician also asks about the duration (e.g., seconds, minutes, hours) and nature of the pain (e.g., sharp, stabbing, squeezing) and radiation to other parts of the body (e.g., neck, left shoulder, left arm). Chest pain of cardiac origin is not sharp; it manifests as a deep, heavy pressure or the feeling of choking or a squeezing sensation, and it is usually triggered by exercise. The physician should ask whether deep breathing improves or worsens the pain. Pain of cardiac origin, except for pericarditis, is not affected by respiration.
Cardiac conditions that may cause chest pain include severe AS (usually associated with activity), pulmonary hypertension or pulmonary vascular obstructive disease, and mitral valve prolapse (MVP). Chest pain in MVP is not necessarily associated with activity, but there may be a history of palpitation. There is increasing doubt about the relationship between chest pain and MVP in children. Less common cardiac conditions that can cause chest pain include severe PS, pericarditis of various causes, and Kawasaki’s disease (in which stenosis or aneurysm of the coronary artery is common).
Most children complaining of chest pain do not have a cardiac condition (see Chapter 30, Child with Chest Pain); cardiac causes of chest pain are rare in children and adolescents. The three most common noncardiac causes of chest pain in children are costochondritis, trauma to the chest wall or muscle strain, and respiratory diseases with cough (e.g., bronchitis, asthma, pneumonia, pleuritis). The physician should ask whether the patient has experienced recent trauma to the chest or has engaged in activity that may have resulted in pectoralis muscle soreness.
Gastroesophageal reflux and exercise-induced asthma are other recognizable causes of noncardiac chest pain in children. Exercise-induced asthma (or bronchospasm) typically occurs 5 to 10 minutes into vigorous physical activities in a child with asthma or with inadequately treated asthma. It can occur in a child previously undiagnosed with asthma. A psychogenic cause of chest pain is also possible; parents should be asked whether there has been a recent cardiac death in the family.
Syncope is a transient loss of consciousness and muscle tone that results from inadequate cerebral perfusion. Dizziness is the most common prodromal symptom of syncope. These complaints could represent a serious cardiac condition that may result in sudden death. It may also be due to noncardiac causes, such as benign vasovagal syncope, dehydration, metabolic abnormalities, or neuropsychiatric disorders. Dehydration or inadequate hydration is an important contributing factor.
A history of exertional syncope may suggest arrhythmias (particularly ventricular arrhythmias, such as seen in long QT syndrome or severe obstructive lesions, e.g., severe AS or hypertrophic cardiomyopathy). Syncope provoked by exercise, that is accompanied by chest pain, or with a history of unoperated or operated heart disease suggests potential cardiac cause of syncope. Syncope while sitting down suggests arrhythmias or seizure disorders. Syncope while standing for a long time suggests vasovagal syncope (often in association with dehydration) without an underlying cardiac disease; this is the most common syncope in children (see Chapter 31 for further discussion). Hypoglycemia is a very rare cause of syncope occurring in the morning. Syncopal duration less than 1 min suggests vasovagal syncope, hyperventilation, or syncope caused by another orthostatic mechanism. A longer duration of syncope suggests convulsive disorders, migraine, or cardiac arrhythmias.
Family history should include coronary heart disease risk factors, including history of myocardial infarction in family members younger than 30 years of age, cardiac arrhythmia, CHD, cardiomyopathies, long QT syndrome, seizures, and metabolic and psychological disorders. A detailed discussion of this topic is presented in Chapter 31.
Palpitation is a subjective feeling of rapid heartbeats. Some parents and children report sinus tachycardia as palpitation. Paroxysms of tachycardia (e.g., supraventricular tachycardia) or single premature beats commonly cause palpitation (see Chapter 32, Palpitation). Children with hyperthyroidism or MVP may first be taken to a physician because of complaints of palpitation.
When joint pain is the primary complaint, acute rheumatic arthritis or rheumatoid arthritis is a possibility, although the incidence of the former has dramatically decreased in recent years in the United States. The number of joints involved, duration of the symptom, and migratory or stationary nature of the pain are important. Arthritis of acute rheumatic fever typically involves large joints, either simultaneously or in succession, with a characteristic migratory nature. Pain in rheumatic joints is so severe that children refuse to walk. A history of recent sore throat (and throat culture results) or rashes suggestive of scarlet fever may be helpful. The physician also asks whether the joint was swollen, red, hot, or tender (see Chapter 20 for further discussion).
A history of stroke suggests thromboembolism secondary to cyanotic CHD with polycythemia or infective endocarditis. In the absence of cyanosis, stroke can rarely be caused by paradoxical embolism of a venous thrombus through an ASD. Although very rare, primary hypercoagulable states should also be considered, which include such conditions as antithrombin III deficiency, protein C deficiency, protein S deficiency, disorders of the fibrinolytic system (e.g., hypoplasminogenemia, abnormal plasminogen, plasminogen activator deficiency), dysfibrinogenemia, factor XII deficiency, and lupus anticoagulant (Barger, 2000). Hosts of other conditions cause secondary hypercoagulable states. A history of headache may be a manifestation of cerebral hypoxia with cyanotic heart disease, severe polycythemia, or brain abscess in cyanotic children. Although it is claimed to occur in adults, hypertension with or without COA rarely causes headaches in children. Choreic movement strongly suggests rheumatic fever.
Physicians should note the name, dosage, timing, and duration of cardiac and noncardiac medications. Medications may be responsible for the chief complaint of the visit or certain physical findings. Tachycardia and palpitation may be caused by cold medications or antiasthmatic drugs.
A history of tobacco and illicit drug use, which could be the cause of chief complaints, should be obtained, preferably through a private interview with the child.
Some hereditary diseases may be associated with certain forms of CHD. For example, Marfan’s syndrome is frequently associated with aortic aneurysm or with aortic or mitral insufficiency. Holt-Oram syndrome (ASD and limb abnormalities), long-QT syndrome (sudden death caused by ventricular arrhythmias), and idiopathic sudden death in the family should be inquired about. PS secondary to a dysplastic pulmonary valve is common in Noonan’s syndrome. Lentiginous skin lesion (LEOPARD syndrome) is often associated with PS and cardiomyopathy. Selected hereditary diseases in which cardiovascular disease is frequently found are listed in Table 2-1 along with other nonhereditary syndromes.
Congenital Heart Disease
The incidence of CHD in the general population is about 1% or, more precisely, 8 to 12 of 1000 live births. This does not include PDA in premature infants. The recurrence risk of CHD associated with inherited diseases or chromosomal abnormalities is related to the recurrent risk of the syndrome.
A history of CHD in close relatives increases the chance of CHD in a child. In general, when one child is affected, the risk of recurrence in siblings is about 3%, which is a threefold increase. Having a child with HLHS increases the risk of CHD in subsequent children (to ≈10%), and most centers perform fetal echocardiography. The risk of recurrence is related to the prevalence of particular defects. Whereas lesions with a higher prevalence (e.g., VSD) tend to have a higher risk of recurrence, lesions with a lower prevalence (e.g., tricuspid atresia, persistent truncus arteriosus) have a lower risk of recurrence. Table A-1 in Appendix Alists the recurrence risk figures for various CHDs, which can be used for counseling. The importance of cytoplasmic inheritance has recently been shown in some families based on the observation that the recurrence risk is substantially higher if the mother is the affected parent (see Table A-2 in Appendix A).
Rheumatic fever frequently occurs in more than one family member. There is a higher incidence of the condition among relatives of children with rheumatic fever. Although the knowledge of genetic factors involved in rheumatic fever is incomplete, it is generally agreed that there is an inherited susceptibility to acquiring rheumatic fever.
Hypertension and Atherosclerosis
Essential hypertension and coronary artery disease show a strong familial pattern. Therefore, when a physician suspects hypertension in a young person, it is important to obtain the family history of hypertension. Atherosclerosis results from a complex process in which hereditary and environmental factors interact. The most important risk factor for atherosclerosis is a positive family history, with coronary heart disease occurring before age 55 years in one’s father or grandfather and before age 65 years in one’s mother or grandmother. Clustering of cardiovascular risk factors occurs frequently in the same individual (metabolic syndrome), which calls for investigation for other risk factors when one risk factor is found. Detailed discussion of cardiovascular risk factors is presented in Chapter 33.