Transesophageal echocardiography (TEE) is accepted as the method of choice for the diagnosis of the patent foramen ovale (PFO). However, direct anatomic confirmation regarding the presence or absence of a PFO on transesophageal imaging has been obtained in only a limited number of patients. Consequently, this study was performed to assess the diagnostic accuracy of contrast and color Doppler TEE for detection of a PFO by comparing the results of TEE with autopsy. The study population comprised 35 consecutive patients (mean age 64 +/- 14 years) who underwent autopsy and prior TEE with examination of the atrial septum. For diagnosis of a PFO, the following criteria were used: (1) no defect in the continuity of the atrial septum on 2-dimensional imaging; (2) > or = 1 bright microbubble appearing in left the atrium within 3 heart cycles after opacification of the right atrium during contrast TEE; and (3) turbulent color jet within the atrial septum by color Doppler TEE. For estimating the PFO size, positive contrast studies were graded semiquantitatively (from 1 to 3), and the maximal color Doppler jet width was measured within the atrium septum at the area of maximal turbulence. At autopsy, a PFO was present in 9 of 35 patients (26%). All were correctly diagnosed by color Doppler TEE. The color Doppler jet width correlated well with the PFO diameter determined at autopsy (r=0.99, SEE=0.51 mm, p<0.0001). By contrast TEE, 8 of the 9 patients with autopsy-proven PFO were correctly identified. In 1 case with left heart disease and a long interatrial channel, a PFO was missed by contrast TEE but clearly demonstrated by color Doppler TEE. All patients with a PFO diameter >10 mm showed intense left atrial opacification of grade 3. With both methods, there were no false-positive results. Sensitivity and specificity for diagnosis of a PFO were 89% and 100% respectively, for contrast TEE, and both 100% for color Doppler TEE. Thus, contrast and color Doppler TEE are complementary and represent a highly sensitive and specific method for diagnosis of a PFO and for estimation of the PFO size.