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April 18, 1986

Autoantibodies tied to some heart ailments

JAMA. 1986;255(15):1979-1984. doi:10.1001/jama.1986.03370150017003

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In 1967, pediatrician Jacqueline A. Noonan, MD, saw a baby in the hospital nursery with congenital heart block. Looking outside the nursery door, she noted a mother with a large butterfly rash on her face. Noonan turned to a maternity ward nurse and asked: "Does that mother go with that baby?" Told that she did, Noonan remarked that the mother had lupus. The nurse replied that the mother had undergone a test for lupus erythematosus (LE) cell factor (a type of antinuclear antibody often present in lupus patients' serum), the results of which were negative. Recalling everything she knew from, training and experience about the signs of this disorder, Noonan exclaimed: "I can't help that, she's got lupus!"

Ninety percent of deaths from congenital heart disease occur within the first year of life, but pediatricians are at a loss to understand what causes most of the heart defects they encounter.