To assess the severity and precise anatomy of congenital mitral stenosis (MS), 17 patients with congenital left ventricular inflow obstruction were studied by M-mode and two-dimensional echocardiography (2DE) and by cardiac catheterization. In six patients MS was an isolated lesion and in 11 it was combined with other cardiovascular malformations. The diagnosis was confirmed at operation or autopsy in 15 patients. Twenty normal subjects of the same age and sex were selected as controls. M-mode amplitude and speed of diastolic closure (E-F slope) of the anterior mitral valve leaflet were determined in all patients. Mitral valve areas were traced after careful short-axis 2DE scans in 15 patients. Supravalvar, valvar, or subvalvar obstruction was evaluated in patients with surgical or autopsy documentation. Analysis of M-mode echocardiograms showed a reduction of E-F slope in all patients compared to normal control subjects but a poor correlation between E-F slope and hemodynamic data (mitral valve areas or pressure gradients). Diastolic fluttering of either or both mitral valve leaflets was found in 12 patients. It is concluded that M-mode echocardiography may be useful for qualitative assessment of congenital MS, even in the presence of associated heart defects, but less useful in evaluating its severity. Analysis of 2DE revealed good correlation between mitral valve areas as calculated with 2DE and with the Gorlin formula at cardiac catheterization, despite the complexity of the congenital mitral lesion. Anatomic varieties of congenital left ventricular inflow obstruction, such as stenosing supravalvar mitral ring or parachute deformity of the mitral valve, were recognized at 2DE.(ABSTRACT TRUNCATED AT 250 WORDS)