The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases

Abstract

Clinical and morphologic features of the cardiovascular system are described in five necropsy patients with the Hurler syndrome. In all five patients the coronary arteries, four cardiac valves, mural endocardium of all four chambers, myocardial walls and aorta were affected in a characteristic manner. All of these sites contained large clear cells known as Hurler cells (readily visible by light microscopy). In addition, granular cells were observed in semi-thin (1 mu) sections and by electron microscopy in the coronary arteries, atrioventricular (A-V) valves and in myocardial interstitium. These latter cells appear to produce collagen in an abnormal way and are probably responsible for the heavy deposits of collagen in the cardiovascular system of patients with the Hurler syndrome. In the cardiac muscle cells, in smooth muscle cells of the coronary arteries and in fibroblasts, wherever located, deposits of acid mucopolysaccharides and glycolipids usually were also observed. The acid mucopolysaccharide deposits were observed easily with light microscopy except in the cardiac muscle cells where they were seen only with electron microscopy. The glycolipid depositis, observed only on examination of 1 mu thick sections or with electron microscopy, have not previously been observed in coronary arteries or in myocardial cells. The infiltration into the heart by these cells and deposits in all five patients resulted in severe narrowing of the extramural coronary arteries, considerable thickening of the cardiac valves (the left-sided more than the right-sided valves), generalized thickening of mural endocardium and "stiffening" of the myocardial walls. Thus, the cardiovascular lesions in the Hurler syndrome are specific and life-threatening.