Aortic and mitral valve stenosis with regurgitation: not due to rheumatic heart disease.
The patient is a 13-year-old Mexican-American immigrant who had no previous medical care. Upon arrival to the United States she was diagnosed with severe mitral valve stenosis and regurgitation. In addition she had severe aortic stenosis with mild to moderate aortic valve regurgitation, which was thought to be rheumatic heart disease. On the basis of the clinical and echocardiographic findings she was taken to the operating room for both mitral and aortic valve replacement. Her operation was complicated by the discovery that her aorta was completely calcified, as were her coronary arteries, mitral valve and aortic valve. She underwent aortic and mitral valve replacement as well as replacement of her aortic arch. Her coronary arteries were patch augmented and reimplanted into the newly created ascending aorta. Based on the pathologic examination of the surgical tissue a diagnosis of Gaucher disease was made.
Talluto
Christopher J
CJ
Division of Pediatric Cardiology, Department of Pediatrics, Lucille Packard Children's Hospital (LPCH) and Stanford University, Stanford, CA 94304, USA. norm.silverman@stanford.edu
Silverman
Norman H
NH
D000293:Adolescent; D001024:Aortic Valve Stenosis / Q000000981:diagnostic imaging* / Q000209:etiology*; D002114:Calcinosis / Q000150:complications / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D004452:Echocardiography; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000000981:diagnostic imaging*; D006801:Humans; D008946:Mitral Valve Stenosis / Q000000981:diagnostic imaging* / Q000209:etiology*; D012214:Rheumatic Heart Disease / Q000150:complications / Q000000981:diagnostic imaging