Mitral and Aortic Valve Thickening Associated with Galactosialidosis: Echocardiographic Features of a Lysosomal Storage Disease

Echocardiography

Volumn 20, Issue 7, 2003, Pages 605-606

  Bursi, Francesca ^a   Osranek, Martin ^a   Seward, James B ^a   O'Leary, Patrick W ^a  

^a MAYO CLINIC   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CARBOXYPEPTIDASE C; GALACTOSIDASE; PROTEIN; SIALIDASE;

ADOLESCENT; ANTERIOR COMMISSURE; AORTA STENOSIS; AORTA VALVE DISEASE; ARTICLE; CASE REPORT; CLINICAL FEATURE; CONGENITAL MALFORMATION; CONSANGUINEOUS MARRIAGE; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; ECHOCARDIOGRAPHY; ENZYME DEFICIENCY; FAMILY HISTORY; GALACTOSIALIDOSIS; HEART DISEASE; HUMAN; LYSOSOME STORAGE DISEASE; MALE; MITRAL VALVE DISEASE; MITRAL VALVE REGURGITATION; MITRAL VALVE STENOSIS; PHYSICAL EXAMINATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; SKELETON MALFORMATION; SYSTOLIC HEART MURMUR;

ADOLESCENT; AORTIC VALVE; ECHOCARDIOGRAPHY; GALACTOSIDASES; HEART VALVE DISEASES; HUMANS; LYSOSOMAL STORAGE DISEASES; MALE; MITRAL VALVE; NEURAMINIDASE;

EID: 0142139119     PISSN: 07422822     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1540-8175.2003.02139.x     Document Type: Article

References (4)

1. Patel MS, Callahan JW, Zhang S, et al: Early-infantile galactosialidosis: Prenatal presentation and postnatal follow-up. Am J Med Genet 1999;85:38-47.
2. Senocak F, Sarclar M, Ozkutlu S: Echocardiographic findings in some metabolic storage diseases. Jpn Heart J 1994;35:635-643.
3. Strisciuglio P, Sly WS, Dodson WE, et al: Combined deficiency of beta-galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form. Am J Med Genet 1990;37:573-577.
4. Jones KL, Smith DW: Smith's Recognizable Patterns of Human Malformation. Philadelphia: Saunders, 1997, pp. 456-457.