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Progressively worsening hypertrophic cardiomyopathy in a child with newly diagnosed Costello syndrome while receiving growth hormone therapy

Published online by Cambridge University Press:  22 March 2010

Daisuke Kobayashi*
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America
Amanda L. Cook
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America
Derek A. Williams
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Winston-Salem, North Carolina, United States of America
*
Correspondence to: Dr D. Kobayashi, MD, Division of Pediatric Cardiology, Department of Pediatrics, Wake Forest University School of Medicine, Medical Center Boulevard, Winston-Salem, NC 27157, United States of America. Tel: +336 716 2694; Fax: +336 716 7100; E-mail: [email protected]

Abstract

We describe a 6-year-old boy with newly diagnosed Costello syndrome after the diagnosis of severe hypertrophic cardiomyopathy. His neonatal asymmetric septal cardiomyopathy resolved by 9 months of age but reappeared at 6 years of age. This report highlights two important concepts: the association of genetic syndromes with hypertrophic cardiomyopathy and the possibility of worsening severity of hypertrophic cardiomyopathy linked to growth hormone therapy.

Type
Brief Reports
Copyright
Copyright © Cambridge University Press 2010

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References

1. van Eeghen, AM, van Gelderen, I, Hennekam, RC. Costello syndrome: report and review. Am J Med Genet 1999; 82: 187193.3.0.CO;2-2>CrossRefGoogle Scholar
2. Kerr, B, Einaudi, MA, Clayton, P, et al. Is growth hormone treatment beneficial or harmful in Costello syndrome? J Med Genet 2003; 40: e74e76.CrossRefGoogle ScholarPubMed
3. Aoki, Y, Niihori, T, Kawame, H, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005; 37: 10381040.CrossRefGoogle ScholarPubMed
4. Giehl, K. Oncogenic Ras in tumor progression and metastasis. Biol Chem 2005; 386: 193205.CrossRefGoogle Scholar
5. Quezada, E, Gripp, KW. Costello syndrome and related disorders. Curr Opi Pediatr 2007; 19: 636644.CrossRefGoogle ScholarPubMed
6. Digilio, MC, Sarkozy, A, Capolino, R, et al. Costello syndrome: Clinical diagnosis in the first year of life. Eur J Pedatr 2008; 167: 621628.CrossRefGoogle ScholarPubMed
7. Lin, AE, Grossfeld, PD, Hamilton, RM, et al. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002; 111: 115129.CrossRefGoogle ScholarPubMed
8. Rauen, KA, Hefner, E, Carrillo, K, et al. Molecular aspects, clinical aspects and possible treatment modalities for Costello syndrome: proceedings from the 1st International Costello Syndrome Research Symposium 2007. Am J Med Genet 2008; 146A: 12051217.CrossRefGoogle ScholarPubMed