You are rotating on the pediatric wards and are asked to make a diagnosis in a 10-year-old
boy (image shown below) who was admitted for evaluation of shortness of breath. On
examination he has a harsh systolic ejection murmur which is loudest in the left second
intercostal space and radiates maximally to his left carotid artery.
DIAGNOSIS: Tetrology of Fallot (dextroposition of the aorta, high ventricular
septal defect, pulmonic stenosis, and hypertrophy of the right ventricle). Depending
on the degree of shunt and the severity of pulmonic stenosis, cyanosis of varying
degree may be present from birth. There also exists a pronounced secondary polycythemia
which is reflected in engourged capillaries of the conjunctivae and sclerae and plethoric
lips. The ejection murmur of pulmonary stenosis is similar to that of valvular aortic
stenosis except that it is loudest over the left second intercostal space and radiates
maximally to the left carotid artery.
Note the cyanotic and phlethoric lips, the result of prolonged hypoxemia due to the presence of the Tetrology of Fallot.
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