History and Physical Examination

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Chapter 416 History and Physical Examination

The importance of the history and physical examination cannot be overemphasized in the evaluation of infants and children with suspected cardiovascular disorders. Patients may require further laboratory evaluation and eventual treatment, or the family may be reassured that no significant problem exists. Although the ready availability of echocardiography may entice the clinician to skip these preliminary steps, an initial evaluation by a skilled cardiologist is preferred for several reasons: (1) a cardiac examination allows the cardiologist to guide the echocardiographic evaluation toward confirming or eliminating specific diagnoses, thereby increasing its accuracy; (2) because most childhood murmurs are innocent, evaluation by a pediatric cardiologist can eliminate unnecessary and expensive laboratory tests; and (3) the cardiologist’s knowledge and experience are important in reassuring the patient’s family and preventing unnecessary restrictions on healthy physical activity. An experienced pediatric cardiologist can differentiate an innocent murmur from serious congenital heart disease by history and physical alone with a high sensitivity and specificity.


A comprehensive cardiac history starts with details of the perinatal period including the presence of cyanosis, respiratory distress, or prematurity. Maternal complications such as gestational diabetes, teratogenic medications, systemic lupus erythematosus, or substance abuse can be associated with cardiac problems. If cardiac symptoms began during infancy, the timing of the initial symptoms should be noted to provide important clues about the specific cardiac condition.

Many of the symptoms of heart failure in infants and children are age specific. In infants, feeding difficulties are common. Inquiry should be made about the frequency of feeding and either the volume of each feeding or the time spent on each breast. An infant with heart failure often takes less volume per feeding and becomes dyspneic or diaphoretic while sucking. After falling asleep exhausted, the baby, inadequately fed, will awaken for the next feeding after a brief time. This cycle continues around the clock and must be carefully differentiated from colic or other feeding disorders. Additional symptoms and signs include those of respiratory distress: rapid breathing, nasal flaring, cyanosis, and chest retractions. In older children, heart failure may be manifested as exercise intolerance, difficulty keeping up with peers during sports or need for a nap after coming home from school, poor growth, or chronic abdominal complaints. Eliciting a history of fatigue in an older child requires questions about age-specific activities, including stair climbing, walking, bicycle riding, physical education class, and competitive sports; information should be obtained regarding more severe manifestations such as orthopnea and nocturnal dyspnea.

Cyanosis at rest is often overlooked by parents; it may be mistaken for a normal individual variation in color. Cyanosis during crying or exercise, however, is more often noted as abnormal by observant parents. Many infants and toddlers turn “blue around the lips” when crying vigorously or during breath-holding spells; this condition must be carefully differentiated from cyanotic heart disease by inquiring about inciting factors, the length of episodes, and whether the tongue and mucous membranes also appear cyanotic. Newborns often have cyanosis of their extremities (acrocyanosis) when undressed and cold; this response to cold must be carefully differentiated from true cyanosis, where the mucous membranes are also blue.

Chest pain is an unusual manifestation of cardiac disease in pediatric patients, although it is a frequent cause for referral to a pediatric cardiologist, especially in adolescents. Nonetheless, a careful history, physical examination, and, if indicated, laboratory or imaging tests will assist in identifying the cause of chest pain (Table 416-1). For patients with some forms of repaired congenital heart disease or those with a history of Kawasaki disease (Chapter 438.1); however, chest pain should be evaluated carefully for a coronary etiology.

Cardiac disease may be a manifestation of a known congenital malformation syndrome with typical physical findings (Table 416-2) or a manifestation of a generalized disorder affecting the heart and other organ systems (Table 416-3). Extracardiac malformations may be noted in 20-45% of infants with congenital heart disease. Between 5 and 10% of patients have a known chromosomal abnormality; the importance of genetic evaluation will increase as our knowledge of specific gene defects linked to congenital heart disease increases.


Trisomy 21 (Down syndrome) Endocardial cushion defect, VSD, ASD
Trisomy 21p (cat eye syndrome) Miscellaneous, total anomalous pulmonary venous return
Trisomy 18 VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve
Trisomy 13 VSD, ASD, PDA, coarctation of aorta, bicuspid aortic or pulmonary valve
Trisomy 9 Miscellaneous
Penta X PDA, VSD
Triploidy VSD, ASD, PDA
XO (Turner syndrome) Bicuspid aortic valve, coarctation of aorta
Fragile X Mitral valve prolapse, aortic root dilatation
Duplication 3q2 Miscellaneous
Deletion 4p VSD, PDA, aortic stenosis
Deletion 9p Miscellaneous
Deletion 5p (cri du chat syndrome) VSD, PDA, ASD
Deletion 10q VSD, TOF, conotruncal lesions*
Deletion 13q VSD
Deletion 18q VSD
CHARGE association (coloboma, heart, atresia choanae, retardation, genital, and ear anomalies) VSD, ASD, PDA, TOF, endocardial cushion defect
DiGeorge sequence, CATCH 22 (cardiac defects, abnormal facies, thymic aplasia, cleft palate, and hypocalcemia) Aortic arch anomalies, conotruncal anomalies
Alagille syndrome (arteriohepatic dysplasia) Peripheral pulmonic stenosis, PS, TOF
VATER association (vertebral, anal, tracheo esophageal, radial, and renal anomalies) VSD, TOF, ASD, PDA
FAVS (facio-auriculo-vertebral spectrum) TOF, VSD
CHILD (congenital hemidysplasia with ichthyosiform erythroderma, limb defects) Miscellaneous
Mulibrey nanism (muscle, liver, brain, eye) Pericardial thickening, constrictive pericarditis
Asplenia syndrome Complex cyanotic heart lesions with decreased pulmonary blood flow, transposition of great arteries, anomalous pulmonary venous return, dextrocardia, single ventricle, single atrioventricular valve
Polysplenia syndrome Acyanotic lesions with increased pulmonary blood flow, azygos continuation of inferior vena cava, partial anomalous pulmonary venous return, dextrocardia, single ventricle, common atrioventricular valve
PHACE syndrome (posterior brain fossa anomalies, facial hemangiomas, arterial anomalies, cardiac anomalies and aortic coarctation, eye anomalies) VSD, PDA, coarctation of aorta, arterial aneurysms
Congenital rubella PDA, peripheral pulmonic stenosis
Fetal hydantoin syndrome VSD, ASD, coarctation of aorta, PDA
Fetal alcohol syndrome ASD, VSD
Fetal valproate effects Coarctation of aorta, hypoplastic left side of heart, aortic stenosis, pulmonary atresia, VSD
Maternal phenylketonuria VSD, ASD, PDA, coarctation of aorta
Retinoic acid embryopathy Conotruncal anomalies
Apert syndrome VSD
Autosomal dominant polycystic kidney disease Mitral valve prolapse
Carpenter syndrome PDA
Conradi syndrome VSD, PDA
Crouzon disease PDA, coarctation of aorta
Cutis laxa Pulmonary hypertension, pulmonic stenosis
de Lange syndrome VSD
Ellis–van Creveld syndrome Single atrium, VSD
Holt-Oram syndrome ASD, VSD, 1st-degree heart block
Infant of diabetic mother Hypertrophic cardiomyopathy, VSD, conotruncal anomalies
Kartagener syndrome Dextrocardia
Meckel-Gruber syndrome ASD, VSD
Noonan syndrome Pulmonic stenosis, ASD, cardiomyopathy
Pallister-Hall syndrome Endocardial cushion defect
Rubinstein-Taybi syndrome VSD
Scimitar syndrome Hypoplasia of right lung, anomalous pulmonary venous return to inferior vena cava
Smith-Lemli-Opitz syndrome VSD, PDA
TAR syndrome (thrombocytopenia and absent radius) ASD, TOF
Treacher Collins syndrome VSD, ASD, PDA
Williams syndrome Supravalvular aortic stenosis, peripheral pulmonic stenosis

ASD, atrial septal defect; AV, aortic valve; PDA, patent ductus arteriosus; PS, pulmonary stenosis; TOF, tetralogy of Fallot; VSD, ventricular septal defect.

* Conotruncal includes TOF, pulmonary atresia, truncus arteriosus, and transposition of great arteries.


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