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Rapidly progressive heart failure requiring transplantation in muscular dystrophy: a need for frequent screening

Published online by Cambridge University Press:  10 July 2017

Justin M. Pick ,
Zachary D. Ellis ,
Juan C. Alejos  and
Anthony C. Chang
Justin M. Pick*
Affiliation:
Children’s Hospital of Orange County, Orange, California, United States of America
Zachary D. Ellis
Affiliation:
Chapman University, Orange, California, United States of America
Juan C. Alejos
Affiliation:
Mattel Children’s Hospital UCLA, Los Angeles, California, United States of America
Anthony C. Chang
Affiliation:
Children’s Hospital of Orange County, Orange, California, United States of America
*
Correspondence to: Anthony C. Chang Children’s Hospital of Orange County, 505 South Main Street, Suite 200, Orange, CA 92868. Tel: 714-509-3939; Fax: 714-509-3949; E-mail: [email protected]
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Abstract

Fukuyama congenital muscular dystrophy weakens both skeletal and cardiac muscles, but the rate of cardiomyopathic progression can accelerate faster than that of skeletal muscles. A 14-year-old boy with Fukuyama congenital muscular dystrophy presented with mild skeletal myopathy but severe cardiomyopathy requiring heart transplantation within 1 year of declining heart function. These patients need frequent screening regardless of musculoskeletal symptoms.

Keywords

Fukuyama congenital muscular dystrophydilated cardiomyopathyleft ventricular systolic function
Type
Brief Report
Information
Cardiology in the Young , Volume 27 , Issue 9 , November 2017 , pp. 1836 - 1840
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Copyright
© Cambridge University Press 2017 

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References

1. Louhichi, N, Triki, C, Quijano-Roy, S, et al. New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families. Neurogenetics 2004; 5: 27–34.Google ScholarPubMed
2. Nakanishi, T, Sakauchi, M, Kaneda, Y, et al. Cardiac involvement in Fukuyama-type congenital muscular dystrophy. Pediatrics 2006; 117: e1187–e1192.CrossRefGoogle ScholarPubMed
3. Hayashi, YK, Ogawa, M, Tagawa, K, et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology 2001; 57: 115–121.CrossRefGoogle ScholarPubMed
4. Saito, K, Osawa, M, Wang, ZP, et al. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet 2000; 92: 184–190.3.0.CO;2-N>CrossRefGoogle ScholarPubMed
5. Bushby, K, Muntoni, F, Bourke, JP. 107th ENMC international workshop: the management of cardiac involvement in muscular dystrophy and myotonic dystrophy. 7th–9th June 2002, Naarden, the Netherlands. Neuromuscul Disord (Official journal of the world muscle society) 2003; 13: 166–172.CrossRefGoogle Scholar
6. Frankel, KA, Rosser, RJ. The pathology of the heart in progressive muscular dystrophy: epimyocardial fibrosis. Hum Pathol 1976; 7: 375–386.CrossRefGoogle ScholarPubMed
7. Hoogerwaard, EM, de Voogt, WG, Wilde, AA, et al. Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period. J Neurol 1997; 244: 657–663.CrossRefGoogle Scholar
8. Duboc, D, Meune, C, Pierre, B, et al. Perindopril preventive treatment on mortality in Duchenne muscular dystrophy: 10 years’ follow-up. Am Heart J 2007; 154: 596–602.CrossRefGoogle ScholarPubMed
9. Tsirka, AE, Trinkaus, K, Chen, SC. Improved outcomes of pediatric dilated cardiomyopathy with utilization of heart transplantation. ACC Curr J Rev 2004; 13: 70–71.CrossRefGoogle Scholar
10. Buyse, GM, Goemans, N, van den Hauwe, M, et al. Idebenone as a novel, therapeutic approach for Duchenne muscular dystrophy: results from a 12 month, double-blind, randomized placebo-controlled trial. Neuromuscul Disord 2011; 21: 396–405.CrossRefGoogle ScholarPubMed
11. Jarmin, S, Kymalainen, H, Popplewell, L, Dickson, G. New developments in the use of gene therapy to treat Duchenne muscular dystrophy. Expert Opin Biol Ther 2013; 14: 209–230.CrossRefGoogle ScholarPubMed