A detailed history and comprehensive bedside physical examination are the starting point for clinical evaluation and provide information on patient status, ventricular pressures, volumes and contractility, valve function, and cardiac anatomy. Unfortunately, the diagnostic auscultation skills of physicians-in-training is often poor,1-3 a situation at least in part created by the availability of modern imaging techniques. Ideally, a thorough cardiac physical examination should provide a diagnosis or limited differential diagnosis and form the basis for efficient patient evaluation.
Several features of the patient’s appearance provide useful clues about the presence of heart disease. Infants with large left-to-right shunts or lesions associated with poor cardiac output can have failure to thrive. Plotting their weight and height measurements on growth curves frequently demonstrates crossing of percentiles in a downward direction. In such infants, weight is usually affected before height.
Cyanosis can be caused by cardiac, pulmonary, hematologic, or central nervous system disorders.4 Because of the characteristics of fetal hemoglobin, which produces higher oxygen saturation for a given oxygen tension, identifying subtle cyanosis in neonates is difficult.5 Similar challenges are present in patients with darker skin pigmentation.
In patients with congenital heart disease, extracardiac anomalies are present in approximately 20%, and specific syndromes are identified in approximately 8%.6 Syndromes that occur relatively frequently are listed in Table 51-1.7 Recognition of certain syndromes can lead to early detection of heart disease, which may not produce murmurs in the neonatal period when pulmonary vascular resistance is elevated.
TABLE 51-1Frequently Encountered Syndromes and Associated Congenital Heart Disease |Favorite Table|Download (.pdf) TABLE 51-1 Frequently Encountered Syndromes and Associated Congenital Heart Disease
|Syndrome ||Patients with Cardiac Disease (%) ||Common Cardiac Lesions |
|Alagille ||85 ||PPS |
|Chromosome 22q11 deletion ||80 ||IAA, TrArt, TOF |
|Duchenne muscular dystrophy ||100 ||Cardiomyopathy |
|Holt-Oram ||50 ||ASD |
|Marfan ||Nearly all ||MVP, MR, dilated aorta, AR |
|Noonan ||50 ||PS, PPS, HCMP |
|Trisomy 21 ||45 ||CAVC, VSD, PDA, TOF |
|Trisomy 13 or 18 ||>80 ||VSD, ASD, PDA, CPND |
|Turner ||35 ||AS, HCMP, CoA |
|VACTERL ||50 ||VSD, TOF |
|Williams ||50 ||SAS, PPS, CoA |
Analysis of the vital signs provides a description of the patient’s status and information about the likelihood of a cardiac condition.