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Medical and surgical perspectives of cardiac hypertrophy in Costello syndrome

Published online by Cambridge University Press:  14 October 2009

David Kalfa ,
Alain Fraisse  and
Bernard Kreitmann
David Kalfa*
Affiliation:
Department of Thoracic and Cardio-Vascular Surgery, La Timone Children’s Hospital, Marseille, France
Alain Fraisse
Affiliation:
Department of Paediatric Cardiology, La Timone Children’s Hospital, Marseille, France
Bernard Kreitmann
Affiliation:
Department of Thoracic and Cardio-Vascular Surgery, La Timone Children’s Hospital, Marseille, France
*
Correspondence to: David Kalfa, Service de Chirurgie Thoracique et Cardio-vasculaire, Hôpital La Timone Enfants, Centre Hospitalier Universitaire Marseille, 264 rue Saint-Pierre, 13385 Marseille, France. Tel: +33 6 17 09 14 88; Fax: +33 491 384 576; E-mail: [email protected]
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Abstract

We describe our experience with 2 patients having Costello syndrome, aged 11 and 36 months, who suffered systolic anterior motion of the aortic leaflet of the mitral valve and obstructive cardiac hypertrophy requiring surgery, comparing their cardiac characteristics to those described previously. We conclude that the heterogeneous nature of the cardiac hypertrophy in this syndrome can be considered and managed as the sum of a diffuse hypertrophy accessible to beta-blockade, and an asymmetric hypertrophy accessible to surgical myomectomy.

Keywords

Beta-blockershypertrophic cardiomyopathygenetic syndromesubaortic stenosissupraventricular tachycardiasurgical myomectomy
Type
Brief Reports
Information
Cardiology in the Young , Volume 19 , Issue 6 , December 2009 , pp. 644 - 647
Copyright
Copyright © Cambridge University Press 2009

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References

1.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 A 2008; 146: 1205–1217.CrossRefGoogle Scholar
2.Costello, JM. A new syndrome. NZ Med J 1971; 74: 397.Google Scholar
3.Johnson, JP, Golabi, M, Norton, ME, et al. Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J Pediatr 1998; 133: 441–448.CrossRefGoogle ScholarPubMed
4.Siwik, ES, Zahka, KG, Wiesner, GL, Limwongse, C. Cardiac disease in Costello syndrome. Pediatrics 1998; 101: 706–709.CrossRefGoogle ScholarPubMed
5.Lin, AE, Grossfeld, PD, Hamilton, RM, et al. Further delineation of cardiac abnormalities in Costello syndrome. Am J Med Genet 2002; 111: 115–129.CrossRefGoogle ScholarPubMed
6.Lurie, IW. Genetics of the Costello syndrome. Am J Med Genet 1994; 52: 358–359.CrossRefGoogle ScholarPubMed
7.Gripp, KW, Lin, AE, Nicholson, L, et al. Further delineation of the phenotype resulting from BRAF or MEK1 germline mutations helps differentiate cardio-facio-cutaneous syndrome from Costello syndrome. Am J Med Genet A 2007; 143: 1472–1480.CrossRefGoogle Scholar
8.Izumikawa, Y, Naritomi, K, Tohma, T, Shiroma, N, Hirayama, K. The Costello syndrome: a boy with thick mitral valves and arrhythmias. Jpn J Hum Genet 1993; 38: 329–334.CrossRefGoogle ScholarPubMed
9.Costello, JM. Costello syndrome: update on the original cases and commentary. Am J Med Genet 1996; 62: 199–201.CrossRefGoogle ScholarPubMed
10.Tomita, H, Fuse, S, Ikeda, K, Matsuda, K, Chiba, S. An infant with Costello syndrome complicated with fatal hypertrophic obstructive cardiomyopathy. Acta Paediatr Jpn 1998; 40: 608–611.CrossRefGoogle ScholarPubMed