Echocardiographic screening results in patients with tuberous sclerosis complex

We sought to examine the frequency of abnormal echocardiographic findings in patients with tuberous sclerosis complex. In a retrospective cohort study, we included all patients with known tuberous sclerosis complex who had been sent to our cardiology department for echocardiographic screening from 1995 through August 2003 (n=56). Two research scientists independently reviewed the reports of the echocardiographic screening examinations for abnormal findings. We used descriptive statistics, the Mann-Whitney U test, and the chi(2) test. The mean age of patients included in the study was 35 years (range, 12-73 yr); 23 patients were male. Abnormal findings were seen in 22 patients (39\%). The most common abnormal findings were focal areas of increased intramyocardial echogenicity, which were seen in 16 patients (29\%). The clinical consequence of this finding is still unknown. We conclude that echocardiographic abnormalities are common in patients with tuberous sclerosis complex.