Atrioventricular block and diastolic dysfunction in a patient with sanfilippo C

Internal Medicine

Volumn 49, Issue 21, 2010, Pages 2313-2316

  Misumi, Ikuo ^a   Chikazawa, Shoji ^a   Ishitsu, Takateru ^a   Higuchi, Shigenori ^a   Shimazu, Tomoyuki ^a   Ikeda, Chizuru ^a   Uchino, Mariko ^a   Shibata, Yoshihiro ^a   Ebihara, Kenji ^a   Akahoshi, Ryuichiro ^a  

^a Kumamoto Saishunsou National Hospital   (Japan)

Author keywords

Atrioventricular block; Diastolic dysfunction; Sanfilippo C

Indexed keywords

HEPARAN SULFATE;

ADULT; ARTICLE; ARTIFICIAL HEART PACEMAKER; ATRIOVENTRICULAR BLOCK; BRADYCARDIA; CALCIUM URINE LEVEL; CASE REPORT; CLINICAL FEATURE; DEMENTIA; DEVELOPMENTAL DISORDER; DIASTOLIC DYSFUNCTION; DOPPLER ECHOCARDIOGRAPHY; ELECTROCARDIOGRAM; ENDOTRACHEAL INTUBATION; ENZYME ASSAY; FEMALE; HEARING LOSS; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE MASS; HEART RATE; HUMAN; MENTAL DEVELOPMENT; MITRAL VALVE REGURGITATION; MUCOPOLYSACCHARIDOSIS; PERICARDIAL EFFUSION; SANFILIPPO SYNDROME; TRANSTHORACIC ECHOCARDIOGRAPHY;

ADULT; ATRIOVENTRICULAR BLOCK; DIASTOLE; FEMALE; HUMANS; MITRAL VALVE INSUFFICIENCY; MUCOPOLYSACCHARIDOSIS III; VENTRICULAR DYSFUNCTION, LEFT;

EID: 78249266579     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.49.4210     Document Type: Article

References (11)

1. Klein U, Kresse H, von Figura K. Sanfilippo syndrome type C: Deficiency of acetyl-CoA:a-glucosaminide N-acetyltransferase in skin fibroblasts. Proc Natl Acad Sci USA 75: 5185-5189, 1978.
2. Devereux RB, Alonso DR, Lutas EM, et al. Echocardiographic assessment of left ventricular hypertrophy: comparison to necropsy findings. Am J Cardiol 57: 450-458, 1986.
3. Feigenbaum H. Echocardiography 5th ed. 1994. 664.
4. Ommen SR, Nishimura RA, Appleton CP, et al. Clinical utility of Doppler echocardiography and tissue Doppler imaging in the estimation of left ventricular filling pressures: A comparative simultaneous Doppler-catheterization study. Circulation 102: 1788-1794, 2000.
5. Mckusick VA. The genetic mucopolysaccharidoses. Circulation 31: 1-4, 1965.
6. Hrebícek M, Mrázová L, Seyrantepe V, et al. Mutations in TMEM 76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome). Am J Hum Genet 79: 807-819, 2006.
7. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 281: 249-254, 1999.
8. Wraith JE. The mucopolysaccharidoses: a clinical review and guide to management. Arch Dis Child 72: 263-267, 1995.
9. Muenzer J, Beekman RH, Profera LM, Bove EL. Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome). Pediatr Cardiol 14: 130-132, 1993.
10. Kurihara M, Kumagai K, Yagishita S. Sanfilippo syndrome type C: a clinicopathological autopsy study of a long-term survivor. Pediatr Neurol 14: 317-321, 1996.
11. Walker RW, Darowski M, Morris P, Wraith JE. Anaesthesia and mucopolysaccharidoses. A review of airway problems in children. Anaesthesia 49: 1078-1084, 1994.