History and Physical Examination

Maternal infection: Rubella during the first trimester of pregnancy commonly results in PDA and PA stenosis (rubella syndrome, see Table 1.1 ). Other viral infections early in pregnancy may be teratogenic. Viral infections (including human immunodeficiency virus) in late pregnancy may cause myocarditis.

Maternal medications: The following is a partial list of suspected teratogenic drugs that cause CHDs.

• a.

  Amphetamines (VSD, PDA, ASD, and TGA), phenytoin (PS, AS, COA, and PDA), trimethadione (fetal trimethadione syndrome: TGA, VSD, TOF, HLHS, see Table 1.1 ), lithium (Ebstein’s anomaly), retinoic acid (conotruncal anomalies), valproic acid (various noncyanotic defects), and progesterone or estrogen (VSD, TOF, and TGA) are highly suspected teratogens.

• b.

  Warfarin may cause fetal warfarin syndrome (TOF, VSD, and other features, such as ear abnormalities, cleft lip or palate, and hypoplastic vertebrae) (see Table 1.1 ).

• c.

  Excessive maternal alcohol intake may cause fetal alcohol syndrome (in which VSD, PDA, ASD, and TOF are common) (see Table 1.1 ).

• d.

  Cigarette smoking causes intrauterine growth retardation but not CHD.

Maternal conditions:

• a.

  Maternal diabetes increases the incidence of cardiomyopathy in infants and CHD (TGA, VSD, PDA, ECD, COA, and HLHS) and cardiomyopathy (see Table 1.1 ).

• b.

  Maternal lupus erythematosus and mixed connective tissue diseases have been associated with congenital heart block in the offspring.

• c.

  History of maternal CHD may increase the prevalence of CHD in the offspring to as much as 15%, compared with 1% in the general population (see Appendix, Table A.2 ).

Birth weight:

• a.

  Small for gestational age may indicate intrauterine infection or use of chemicals or drugs by the mother.

• b.

  High birth weight is often seen in infants of diabetic mothers.

Poor weight gain and delayed development may be caused by CHF, severe cyanosis, or general dysmorphic conditions. Weight is more affected than height.

Cyanosis, squatting, and cyanotic spells suggest TOF or other cyanotic CHD.

Tachycardia, tachypnea, and puffy eyelids are signs of CHF.

Frequent lower respiratory tract infections may be associated with large L-R shunt lesions.

Decreased exercise tolerance may be a sign of significant heart defects or ventricular dysfunction.

Heart murmur. The time of its first appearance is important. A heart murmur noted shortly after birth indicates a stenotic lesion (AS, PS). A heart murmur associated with large L-R shunt lesions (such as VSD or PDA) may be delayed. Appearance of a heart murmur in association with fever suggests an innocent heart murmur.

Chest pain. Ask if chest pain is exercise-related or nonexertional. Also ask about its duration, nature, and radiation. Nonexertional chest pain is unlikely to have cardiac causes (except for pericarditis). Cardiac causes of chest pain are usually exertional and are very rare in children and adolescents. The three most common causes of noncardiac causes of chest pain in children are costochondritis, trauma to chest wall or muscle strain, and respiratory diseases (see Chest Pain in Chapter 20 ).

Palpitation may be caused by paroxysms of tachycardia, sinus tachycardia, single premature beats; rarely hyperthyroidism or MVP (see Chapter 22 ).

Joint pain. Joints that are involved, presence of redness and swelling, history of trauma, duration of the pain, and migratory or stationary nature of the pain are important. History of recent sore throat and rashes and family history of rheumatic fever are frequent in acute rheumatic fever. History of rheumatoid arthritis is also an important clue to the diagnosis.

Neurologic symptoms. Stroke may result from embolization of thrombus from infective endocarditis, polycythemia, or uncorrected or partially corrected cyanotic CHD. Headache may be associated with polycythemia or rarely with hypertension. Choreic movement may result from rheumatic fever. Fainting or syncope may be due to vasovagal responses, arrhythmias, long QT syndrome, epilepsy, or other noncardiac conditions (see Syncope in Chapter 21 ).

Medications, cardiac and noncardiac (name, dosage, timing, route of administration and duration).

Syndromes and diseases of other systems with associated cardiovascular abnormalities are summarized in Tables 1.1 and 1.2 , respectively.