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Case History :

36 year old female house wife having no children had a history of congenital heart disease since childhood . The patient was apparently well with no symptoms and had a sentary life style. She was not taking any medications. On examination :
Pulse 72/minute regular; BP 105/70 mmHg both arms. Bisferiens pulse.Systolic thrill in suprasternal area.LV not displaced, but sustained. S1 normal; S2 single.Long late-peaking grade 4/4 ESM maximal.Grade 2/4 diastolic blowing murmur.No gallops or extra sounds.JVP normal.

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Investigation Reports :

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Discussion :

This 36 year-old woman had a congenital heart problem. She was apparently well, but inactive.
Her physical exam provides evidence of mixed LVOT disease, with predominant fixed obstruction (her outflow murmur is long and lour). Her aortic regurgitation is probably mild given her BP of 105/70 and her normal apex position.
The echo confirms resting severe subaortic obstruction of the fibromuscular type. A 69 mmHg withdrawal gradient is shown at heart cath. The probability of sudden death as the first symptom of valvular AS may be as high as 2% in adults. Perhaps the risk is similar in the subaortic stenosis group, although we suspect the sudden death risk is probably lower in this group of patients. Surgical resection is recommended now primarily to let her more safely begin a family, although it could also be justified to prevent progression of her aortic regurgitation. It should be done by a surgeon with particular expertise and experience. She should do well, both as regards her subaortic stenosis, and her aortic regurgitation.