Health Supervision for Children With Turner Syndrome

To the Editor. The Committee on Genetics of the American Academy of Pediatrics has shown that Turner syndrome affects many organs, and the Committee has given the pediatrician many useful health supervision guidelines.1 However, we do not agree with their recommendations for cardiac evaluation and follow-up for patients with Turner syndrome. Because more than 20% of patients with Turner syndrome have a cardiac abnormality, the following recommendations were made: 1. In the newborn, “obtain an echocardiogram… . Obtain an initial consultation with a pediatric cardiologist for all persons with Turner syndrome who have abnormal echocardiograms.” 2. Repeat the echocardiogram in infancy “even if one was obtained in the newborn period.” 3. Do echocardiography annually when the patient is between 1 and 5 years old. 4. Do echocardiography “each year if a cardiac anomaly is present; otherwise obtain an echocardiogram at 2-year intervals” when the patient is from 5 to 13 years old. 5. Do echocardiography “for aortic dilatation every 2 years or annually if a bicuspid aortic valve is present.” We do not agree with this recommended use of echocardiography. The better and more cost-effective practice is to have a pediatric patient with suspected heart disease evaluated by a pediatric cardiologist first instead of referring the patient for an echocardiogram first.2-4 Congenital heart defects in patients with Turner syndrome are usually easily diagnosed clinically by a pediatric cardiologist, who can then order appropriate testing and arrange follow-up and treatment. The frequency of echocardiography would be much decreased. For instance, a yearly echocardiogram would not be needed in a patient with a bicuspid aortic valve because such studies do not improve care—the cardiologist can follow-up on the patient on a regular basis and determine clinically when aortic stenosis or incompetence is progressing and can order an echocardiogram only when clinically indicated. This would be cost-effective …