Two-dimensional echo Doppler study of congenital disorders of the mitral valve

To define the use of two-dimensional echocardiography (2DE) and Doppler methods for diagnosis of forms of congenital mitral stenosis, we studied 16 children, age range 2 months to 13 years, with congenital deformities of the mitral valve documented at cardiac catheterization. Thirteen had additional congenital heart defects, most commonly aortic stenosis or aortic coarctation. In eight patients features of mitral valve anatomy were observed and described during cardiac surgery and in one child the anatomy was verified by postmortem examination. 2DE studies allowed anatomic subclassification of 10 valves which had asymmetric or single dominant papillary muscles (parachute) and six which had arcade mitral valve attached by short chords to multiple diminutive papillary muscle heads. All patients' echoes exhibited shortened and thickened mitral chordae and doming of the mitral leaflets during diastole, and seven children had restricted mitral orifices imaged on the short-axis imaging plane. All seven of the patients studied by Doppler echocardiography had increased maximal transmitral inflow velocity (range 111 to 260 cm/sec) greater than the 95% confidence limits for mitral flow velocities in 34 normal children who served as the control group. Our study suggests that 2DE studies, especially when combined with Doppler interrogation, are sensitive for defining forms of congenital mitral stenosis.