Skip to Main Content

INTRODUCTION

Eight in 1000 infants are born with a congenital heart defect. Advances in medical and surgical care allow more than 90% of such children to enter adulthood. Pediatric cardiac care includes not only the diagnosis and treatment of congenital heart disease but also the prevention of risk factors for adult cardiovascular disease—obesity, smoking, and hyperlipidemia. Familial and acquired heart diseases, such as Kawasaki disease (KD), viral myocarditis, cardiomyopathies, and rheumatic heart disease, are also a significant cause of morbidity and mortality in children.

DIAGNOSTIC EVALUATION

HISTORY

Symptoms related to congenital heart defects primarily vary according to the alteration in pulmonary blood flow (Table 20–1). The presence of other cardiovascular symptoms such as palpitations and chest pain should be determined by history in the older child, paying particular attention to the timing (at rest or activity-related), onset, and termination (gradual vs sudden), as well as precipitating and relieving factors.

| Download (.pdf) | Print
Table 20–1. Symptoms of increased and decreased pulmonary blood flow.
Decreased Pulmonary Blood Flow Increased Pulmonary Blood Flow
Infant/toddler
Cyanosis Tachypnea with activity/feeds
Squatting Diaphoresis
Loss of consciousness Poor weight gain
Older child
Dizziness Exercise intolerance
Syncope Dyspnea on exertion, diaphoresis

PHYSICAL EXAMINATION

General

The examination begins with a visual assessment of mental status, signs of distress, perfusion, and skin color. Documentation of heart rate, respiratory rate, blood pressure (in all four extremities), and oxygen saturation is essential. Many congenital cardiac defects occur as part of a genetic syndrome (Table 20–2), and complete assessment includes evaluation of dysmorphic features that may be clues to the associated cardiac defect.

| Download (.pdf) | Print
Table 20–2. Cardiac defects in common syndromes.
Genetic Syndrome Commonly Associated Cardiac Defect
Down syndrome AVSD
Turner syndrome Bicuspid aortic valve, coarctation, dilated aortic root, hypertension
Noonan syndrome Dysplastic pulmonic valve, HCM
Williams-Beuren syndrome Supravalvular aortic stenosis, PPS, coronary ostial stenosis
Marfan syndrome MVP, MR, dilated aortic root
Fetal alcohol syndrome VSD, ASD
Maternal rubella PDA, PPS
Loeys-Dietz syndrome Aneurysmal PDA, dilated aortic root, tortuous arteries throughout the body

ASD, atrial septal defect; AVSD, atrioventricular septal defect; HCM, hypertrophic cardiomyopathy; MR, mitral regurgitation; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PPS, peripheral pulmonary stenosis; VSD, ventricular septal defect.

Cardiovascular Examination

A. Inspection and Palpation

Chest conformation should be noted in the supine position. A precordial bulge indicates cardiomegaly. Palpation may reveal increased precordial activity, right ventricular (RV) lift, or left-sided heave; a diffuse point of maximal impulse; or a precordial thrill caused by a grade IV/VI or greater murmur. The thrill of aortic stenosis is found in the suprasternal notch. In patients with severe pulmonary hypertension (PH), ...

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.