A 2-week-old girl is found to have a harsh murmur along the left sternal border. The parents report that the baby gets “bluish” when she cries or drinks from her bottle. Echocardiogram reveals a congenital heart defect associated with pulmonary stenosis, ventricular septal defect, dextroposition of the aorta, and right ventricular hypertrophy. What is the appropriate diagnosis?

Correct Answer: Tetralogy of Fallot
Description: Tetralogy of Fallot is defined by four anatomic changes: pulmonary stenosis, ventricular septal defect, dextroposition of the aorta, and right ventricular hypertrophy. It is the most common cyanotic congenital heart disease, accounting for 10% of all congenital heart defects. Cyanosis appears shortly after birth or in early infancy due to right-to-left shunting of venous blood from the right ventricle into the dextroposed aorta. The aorta overrides the ventricular septal defect and receives blood from both ventricles. Narrowing of the pulmonary artery impedes the entry of blood into the lung, thereby increasing the pressure in the right ventricle. None of the other choices exhibit this particular constellation of congenital heart defects.Diagnosis: Tetralogy of Fallot
Category: Pathology
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