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Is sudden cardiac death predictable in LEOPARD syndrome?

Published online by Cambridge University Press:  20 November 2006

Giuseppe Limongelli ,
Giuseppe Pacileo  and
Raffaele Calabrò
Giuseppe Limongelli
Affiliation:
Pediatric Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
Giuseppe Pacileo
Affiliation:
Pediatric Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
Raffaele Calabrò
Affiliation:
Pediatric Cardiology, Monaldi Hospital, Second University of Naples, Naples, Italy
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Abstract

We report the sudden cardiac death of a young male presenting with classic clinical features of LEOPARD syndrome, shown to be due to a mutation in the PTPN11 gene, and severe non obstructive hypertrophic cardiomyopathy. We also discuss briefly the usefulness of prophylactic risk stratification in patients with syndromic and non syndromic hypertrophic cardiomyopathy.

Keywords

Hypertrophic cardiomyopathyPTPN11 generisk stratification
Type
Brief Report
Information
Cardiology in the Young , Volume 16 , Issue 6 , December 2006 , pp. 599 - 601
Copyright
© 2006 Cambridge University Press

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References

Maron BJ. Hypertrophic cardiomyopathy. Lancet 1997; 350: 127–133.Google Scholar
Elliott PM, Poloniecki J, Dickie S, et al. Sudden death in hypertrophic cardiomyopathy: identification of high risk patients. J Am Coll Cardiol 2000; 36: 2212–2218.Google Scholar
Spirito P, Bellone P, Harris KM, Bernabo P, Bruzzi P, Maron BJ. Magnitude of left ventricular hypertrophy predicts the risk of sudden death in hypertrophic cardiomyopathy. N Engl J Med 2000; 342: 1778–1785.Google Scholar
Mogensen J, Bahl A, McKenna WJ. Hypertrophic cardiomyo-pathy-the clinical challenge of managing an hereditary heart condition. Eur Heart J 2003; 24: 496–498.Google Scholar
Gorlin RJ, Anderson RC, Blaw M. Multiple lentigines syndrome. Am J Dis Child 1969; 117: 652–662.Google Scholar
Digilio MC, Conti E, Sarkozy A, et al. Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 Gene. Am J Hum Genet 2002; 71: 389–394.Google Scholar
Woywodt A, Welzel J, Haase H, et al. Cardiomyopathic Lentiginosis/LEOPARD syndrome presenting as sudden cardiac arrest. Chest 1998; 113: 1415–1417.Google Scholar
Somerville J, Bonham-Carter RE. The heart in lentiginosis. Br Heart J 1972; 34: 58–66.Google Scholar
Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ. Hypertrophic cardiomyopathy: hystopathological features of sudden death in cardiac troponin T disease. Circulation 2001; 104: 1380–1384.Google Scholar
Digilio MC, Sarkozy A, Pacileo G, Limongelli G, Marino B, Dallapiccola B. PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”. Eur J Pediatr 2006; DOI 10.1007/s00431-006-0163-7.