Differential Diagnosis
The patient's symptoms and physical examination findings suggest a cardiovascular issue. Here's a categorized differential diagnosis:
Single most likely diagnosis
- A. Coarctation of the aorta: The patient's symptoms of shortness of breath during physical activity, recurrent headache, and physical examination findings of a grade 2/6 systolic murmur, lateral displacement of the point of maximal impulse, and decreased pulses in the lower extremities (1+ pulses) are consistent with coarctation of the aorta. The ECG finding of left ventricular hypertrophy also supports this diagnosis, as it is a common complication of coarctation.
Other Likely diagnoses
- B. Marfan syndrome: Although Marfan syndrome can cause cardiovascular issues, including aortic root dilation and mitral valve prolapse, the patient's symptoms and physical examination findings do not strongly suggest this diagnosis. However, it is still a possibility, especially if the patient has a family history of the condition.
- C. Mitral valve prolapse: Mitral valve prolapse can cause a systolic murmur, but it is not typically associated with decreased pulses in the lower extremities or left ventricular hypertrophy on ECG.
- D. Pulmonary stenosis: Pulmonary stenosis can cause a systolic murmur and shortness of breath during physical activity, but it is not typically associated with decreased pulses in the lower extremities or left ventricular hypertrophy on ECG.
Do Not Miss diagnoses
- E. Tetralogy of Fallot: Although tetralogy of Fallot is a congenital heart defect that typically presents in infancy or early childhood, it is a "do not miss" diagnosis due to its potential severity. However, the patient's symptoms and physical examination findings do not strongly suggest this diagnosis.
- Aortic dissection: Aortic dissection is a life-threatening condition that can cause severe chest pain, shortness of breath, and decreased pulses in the lower extremities. Although it is unlikely in a 13-year-old boy, it is a "do not miss" diagnosis due to its potential severity.
Rare diagnoses
- Supravalvular aortic stenosis: This is a rare congenital heart defect that can cause a systolic murmur, shortness of breath during physical activity, and decreased pulses in the lower extremities.
- Williams syndrome: This is a rare genetic disorder that can cause cardiovascular issues, including supravalvular aortic stenosis, and may be associated with a systolic murmur and decreased pulses in the lower extremities.