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Surgical treatment of marked mitral valvar deformity combined with I-cell disease ‘Mucolipidosis II’

Published online by Cambridge University Press:  16 September 2005

Masahiro Daimon  and
Masaaki Yamagishi
Masahiro Daimon
Affiliation:
Department of Pediatric Cardiovascular Surgery, Children's Research Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan
Masaaki Yamagishi
Affiliation:
Department of Pediatric Cardiovascular Surgery, Children's Research Hospital, Kyoto Prefectural University of Medicine, Kyoto, Japan
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Abstract

I-cell disease is a rare, hereditary, and fatal disease, which is often complicated with disease of the cardiac valves. We have experienced a case of severe mitral valvar insufficiency in a 9-month-old male infant with I-cell disease. Mitral valvoplasty was difficult, because the leaflets were remarkably hypertrophic, and the tendinous cords were elongated and adherent. Despite these difficulties, surgery proved effective in the treatment of the congestive heart failure, allowing for further treatment of the I-cell disease.

Keywords

Congenital heart diseasemitral valve insufficiencymitral valve surgery
Type
Brief Report
Information
Cardiology in the Young , Volume 15 , Issue 5 , October 2005 , pp. 517 - 519
Copyright
© 2005 Cambridge University Press

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References

Grewal S, Shapiro E, Braunlin E, et al. Continued neurocognitive development and prevention of cardiopulmonary complications after successful BMT for I-cell disease: a long-term follow-up report. Bone Marrow Transplant 2003; 32: 957–960.Google Scholar
Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders – clinical and echocardiographic findings in 64 patients. Eur J Pediatr 1998; 157: 534–538.Google Scholar
Satoh Y, Sakamoto K, Fujibayashi Y, Uchiyama T, Kajiwara N, Hatano M. Cardiac involvement in mucolipidosis. Importance of non-invasive studies for detection of cardiac abnormalities. Jpn Heart J 1983; 24: 149–159.Google Scholar
Reed GE, Tice DA, Clauss RH. Asymmetric exaggerated mitral annuloplasty: repair of mitral insuffciency with hemodynamic predictability. J Thorac Cardiovasc Surg 1965; 49: 752–761.Google Scholar
Gilbert EF, Dawson G, Zu Rhein GM, Opitz JM, Spranger JW. I-cell disease, mucolipdosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases. Z Kinderheilkd 1973; 114: 259–292.Google Scholar
Leroy JG, Spranger JW, Feingold M, Opitz JM, Crocker AC. I-cell disease: a clinical picture. J Pediatr 1971; 79: 360–365.Google Scholar
Martin JJ, Leroy JG, Farriaux JP, Fontaine G, Desnick RJ, Cabello A. I-cell disease (mucolipidosis II): a report of its pathology. Acta Neuropathol (Berl) 1975; 33: 285–305.Google Scholar
Zias EA, Mavroudis C, Backer CL, Kohr LM, Gotteiner NL, Rocchini AP. Surgical repair of the congenitally malformed mitral valve in infants and children. Ann Thorac Surg 1998; 66: 1551–1559.Google Scholar