She was born with Down's Syndrome and a complete atrioventricular septal defect. She had congestive heart failure in infancy but not subsequently. By age of 5 she demonstrated cyanosis and clubbing. In the past years she has had several episodes of syncope. She has had symptoms of hyperviscosity in the past treated with phlebotomy. She takes digoxin, iron sulfate 325 mg/d, and lasix.
Clinical course:
On physical examination, heart rate 100, blood pressure 125/80, O2 saturation 80% on non-rebreather face mask. She was alert, with cyanotic lips and mucosa, clubbing but no edema of the extremities. The chest was clear. The neck veins were normal. Normal S1, loud P2 component of a split S2. A II/VI systolic ejection murmur was present at the left upper sternal border, a III/IV high pitched blowing diastolic murmur in the same location, a II/VI holosystolic murmur at the left lower sternal border.
The WBCs were normal, Hgb 23.2, Hct 67.6, Plt 55. PT nl, PTT 43. Electrolytes normal.
Studies
