Chapter 416 History and Physical Examination
History
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.
Table 416-1 DIFFERENTIAL DIAGNOSIS OF CHEST PAIN IN PEDIATRIC PATIENTS
MUSCULOSKELETAL (COMMON)
PULMONARY (COMMON)
GASTROINTESTINAL (LESS COMMON)
CARDIAC (LESS COMMON)
IDIOPATHIC (COMMON)
OTHER (LESS COMMON)
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
| SYNDROME | FEATURES |
|---|---|
| CHROMOSOMAL DISORDERS | |
| 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 |
| XXXXY | PDA, ASD |
| 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 |
| SYNDROME COMPLEXES | |
| 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 |
| TERATOGENIC AGENTS | |
| 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 |
| OTHERS | |
| 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.
Table 416-3 CARDIAC MANIFESTATIONS OF SYSTEMIC DISEASES
| SYSTEMIC DISEASE |
|---|
