Our patient is a 15-year-old adolescent male referred for medical evaluation of decrease in exercise tolerance.
The pertinent features of his history include a heart murmur noted early in infancy. His family was told that it probably represented a "minor heart defect" and that he would outgrow it. Subsequent medical care was sporadic. He demonstrated easy fatigability and slight blueness of his lips and nail beds, particularly with exercise since early childhood. His growth remained at the tenth percentile and his development is normal.
In restrospect, his parents do remember that as a toddler, the patient when playing often stopped and rested in the squatting position. At these times, they also remember that his color seemed bluer. A first cousin underwent heart surgery during childhood for a "hole in the heart."
There was no history of palpitations, significant chest pain or syncope. There is no history of either rheumatic fever or recent significant febrile illness. The patient denies substance abuse including smoking tobacco and use of illicit drugs. There is no family history of acquired heart disease, including hypertension and early age heart attack.