Abstract
Twenty-one consecutive children belonging to one extended family, nine girls and twelve boys, with a median age of 3 years (1 day to 16 years), with similar clinical features of velvety, hyperextensible skin, hypermobility of joints, and characteristic facial features, were studied prospectively with echocardiography. Cross-sectional measurements included the aortic annulus, sinus of Valsalva, and the ascending aorta in the parasternal long axis view. In the short axis parasternal view, the pulmonary trunk was measured midway between the pulmonary valve and bifurcation. The right and left pulmonary arteries were measured at their bifurcation points. The appearance of a bifid pulmonary artery, an elongation of the aortic arch and tortuosity and elongation of the brachiocephalic arteries, using high parasternal short axis view and short and long axis suprasternal views, were assessed qualitatively. The descending aorta was visualized in its long axis in a sagittal subcostal view. The control group consisted of 21 normal age and weight matched children who were evaluated with echocardiography for possible heart disease. No statistically significant difference was found in the echocardiographic measurements between the two groups. However, all children in the study group had a bifid pulmonary artery, an elongation of the aortic arch and tortuosity and elongation of the brachiocephalic arteries. Seven of these children also had tortuosity of the descending aorta, three had dilatation of the aortic annulus, sinus of Valsalva and ascending aorta, and five had multiple peripheral pulmonary stenoses. The consistent findings of a bifid pulmonary artery, an elongation of the aortic arch and tortuosity and elongation of the brachiocephalic arteries, can be reliably evaluated with echocardiography, thus identifying children with arterial tortuosity even early in life when characteristic facial features may not be present.
