Radiological Case of the Month | Valvular Heart Disease | JAMA Pediatrics | JAMA Network
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August 2000

Radiological Case of the Month

Author Affiliations

From the Department of Pediatrics (Drs Braunlin, Krivit, Rocchini, and Whitley), Laboratory Medicine and Pathology (Dr Burke), and Surgery (Dr Foker), University of Minnesota Medical School, Minneapolis.



Arch Pediatr Adolesc Med. 2000;154(8):841-842. doi:10.1001/archpedi.154.8.841

A 21-MONTH-OLD boy was referred to our hospital for evaluation of hydrocephalus and unusual facies. A diagnosis of Hurler syndrome was established on the basis of deficient leukocyte α-L-iduronidase enzyme activity, elevated urinary excretion of glycosaminoglycans, and clinical features. The upper extremity blood pressure at initial evaluation was 90/42 mm Hg, and findings from cardiac auscultation revealed a grade II to III/VI pansystolic murmur heard at the cardiac apex. The liver was enlarged. Pulses were equal to palpation in the upper and lower extremities. A 2-dimensional (D) cardiac sonogram showed thickening of the mitral valve with mild mitral regurgitation, concentric left ventricular hypertrophy, and a normal shortening fraction.

A bone marrow transplantation was performed at age 22 months using marrow obtained from the child's human leukocyte antigen–matched father. A 2-D sonogram, performed at age 23 months, confirmed the previous observations and also demonstrated a discrete acceleration of flow within the thoracic aorta. Fifteen months after the marrow transplantation, the child underwent cardiac catheterization and angiography (Figure 1).