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Surgical experience for prolapse of both atrioventricular valves in a patient with filamin A mutation

Published online by Cambridge University Press:  13 February 2014

Takaya Hoashi ,
Isao Shiraishi  and
Hajime Ichikawa
Takaya Hoashi*
Affiliation:
Department of Pediatric Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
Isao Shiraishi
Affiliation:
Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
Hajime Ichikawa
Affiliation:
Department of Pediatric Cardiovascular Surgery, National Cerebral and Cardiovascular Center, Suita, Osaka, Japan
*
Correspondence to: Dr T. Hoashi, MD, PhD, 5-7-1, Fujishiro-dai, Suita, Osaka 565–8565, Japan. Tel: +81 6 6833 5012; Fax: +81 6 6872 7486; E-mail: thoashi@surg1.med.osaka-u.ac.jp
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Abstract

A 21-year-old man underwent mitral valve replacement and tricuspid annuloplasty for severe mitral regurgitation and moderate tricuspid regurgitation. Until the operation, he had been treated for hypermobility type Ehlers–Danlos syndrome. Gene examination revealed a mutation in filamin A gene, which is the gene responsible for X-linked myxomatous valvular dystrophy.

Keywords

Filamin A mutationEhlers–Danlos syndromemitral valve prolapsepaediatric
Type
Brief Reports
Information
Cardiology in the Young , Volume 25 , Issue 2 , February 2015 , pp. 365 - 367
Copyright
© Cambridge University Press 2014 

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References

1. Kyndt, F, Gueffet, JP. Mutations in the gene encoding filamin A as a cause for familial cardiac valvular dystrophy. Circulation 2007; 115: 40–49.CrossRefGoogle ScholarPubMed
2. Lardeux, A, Kyndt, F. Filamin-A-related myxomatous mitral valve dystrophy: genetic, ehocardiographic and functional aspects. J of Cardiovasc Trans Res 2011; 4: 748–756.CrossRefGoogle Scholar
3. Bernstein, JA, Bernstein, D, Hehr, U, Hudgins, L. Familial cardiac valvulopathy due to filamin A mutation. Am J Med Genet A 2011; 155A: 2236–2241.CrossRefGoogle ScholarPubMed
4. Newbury-Ecob, RA, Zuccollo, JM, Rutter, N, Young, ID. Sex linked valvular dysplasia. J Med Genet 1993; 30: 873–874.CrossRefGoogle ScholarPubMed
5. Sheen, VL, Jansen, A, Chen, MH, et al. Filamin A mutations cause periventricular heterotopia with Ehlers–Danlos syndrome. Neurology 2005; 64: 254–262.CrossRefGoogle ScholarPubMed