Marfan syndrome Dilated and dissecting aorta, aortic valve regurgitation, mitral valve prolapse
William syndrome Supravalvular aortic stenosis, peripheral pulmonary stenosis
Infant of diabetic mother Hypertrophic cardiomyopathy, VSD, conotruncal anomalies
Asplenia syndrome Complex cyanotic heart lesions, anomalous pulmonary venous return, dextrocardia, single ventricle, single AV valve
Polysplenia syndrome Azygos continuation of inferior vena cava, pulmonary atresia, dextrocardia, single ventricle
Fetal alcohol syndrome VSD, ASD
Fetal hydantoin syndrome TGA, VSD, TOF
ASD, Atrial septal defect; AV, atrioventricular; PDA, patent ductus arteriosus;
PS, pulmonic stenosis; TGA, transposition of great arteries; TOF, tetralogy of
Fallot; VSD, ventricular septal defect. *Conotruncal—tetralogy of Fallot, pulmonary atresia, truncus arteriosus, transposition of great arteries.
†VACTERL association is also known as VATER association, in which the limb anomalies are not included.
may be seen with aortopulmonary connections (patent ductus arteriosus [PDA], truncus arteriosus, arteriovenous malformations), aortic insufficiency, or relative intravascular volume depletion (anemia, vasodilation with fever or sepsis). A narrow pulse pressure is seen with pericardial tamponade, aortic stenosis, and heart failure.
Inspection includes general appearance, nutritional status, circulation, and respiratory effort. Many chromosomal abnormalities and syndromes associated with cardiac defects have dysmorphic features or failure to thrive (see Table 139-2).Skin color must be assessed for cyanosis and pallor. Central cyanosis (tongue, lips) is associated with arterial desaturation; isolated peripheral cyanosis (hands, feet) is associated with normal arterial saturation and increased peripheral extraction of oxygen. Perioral cyanosis is a common finding, especially in pale infants or when infants and toddlers become cold. Chronic arterial desaturation results in clubbing of the fingernails and toenails. Inspection of the chest may reveal asymmetry or a prominent left precordium suggesting chronic cardiac enlargement.
After inspection, palpation of pulses in all four extremities, the precordial activity, and the abdomen is performed. Pulses are assessed for rate, regularity, intensity, symmetry, and timing between upper and lower extremities. A good pedal pulse with normal right arm blood pressure effectively rules out coarctation of the aorta. The precordium should be assessed for apical impulse, point of maximum impulse, hyperactivity, and presence of a thrill. Abdominal palpation assesses liver and spleen size. The liver size provides an assessment of intra-vascular volume and is enlarged with systemic venous congestion. The spleen may be enlarged with infective endocarditis.
Auscultation is the most important part of the cardiovascular examination, but should supplement what already has been found by inspection and palpation. Systematic listening in a quiet room allows assessment of each portion of the cardiac cycle. In addition to heart rate and regularity, the heart sounds, clicks, and murmurs need to be timed and characterized.