History

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.

Table 416-2 CONGENITAL MALFORMATION SYNDROMES ASSOCIATED WITH CONGENITAL HEART DISEASE

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.

Table 416-3 CARDIAC MANIFESTATIONS OF SYSTEMIC DISEASES