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ISSN 2078-7170 (Electronic)

2015, Number 4

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CorSalud 2015; 7 (4)

Sudden death in patients with LEOPARD syndrome

Rodríguez ME, Rodríguez LLA, Gavilánes HR, Milord FY, Ercia AJM, Cuéllar GÁ, Gavilanes GRC

Language: Spanish
References: 10
Page: 314-317
PDF size: 288.42 Kb.


ABSTRACT

LEOPARD or Moynahan syndrome, also called multiple lentigines, is a rare genetic disease which causes multiple visceral abnormalities, including heart abnormalities, and may trigger sudden death. The case of a 26-year-old woman with a history of hypertrophic cardiomyopathy since early childhood is reported. She was referred to consultation due to loss of consciousness, associated with moderate exertion, and a resuscitated sudden death episode. The study revealed the presence of LEOPARD syndrome with subvalvular pulmonary stenosis and left ventricular hypertrophic cardiomyopathy, both of which cause sudden cardiac death.


REFERENCES

  1. Limongelli G, Pacileo G, Marino B, Digilio MC, Sarko- zy A, Elliott P, et al. Prevalence and clinical signifi-cance of cardiovascular abnormalities in patients with the LEOPARD syndrome. Am J Cardiol. 2007; 100:736-41.

  2. Sarkozy A, Digilio MC, Dallapiccola B. Leopard syn-drome. Orphanet J Rare Dis [Internet]. 2008 [citado 14 Ene 2015];3:13. Disponible en: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467408/pdf/1750-1172-3-13.pdf

  3. Wakabayashi Y, Yamazaki K, Narumi Y, Fuseya S, Horigome M, Wakui K, et al. Implantable cardiover-ter defibrillator for progressive hypertrophic car-diomyopathy in a patient with LEOPARD syndrome and a novel PTPN11 mutation Gln510His. Am J Med Genet A. 2011;155A:2529-33.

  4. Kim J, Kim MR, Kim HJ, Lee KA, Lee MG. LEOPARD Syndrome with PTPN11 gene mutation showing six cardinal symptoms of LEOPARD. Ann Dermatol. 2011;23:232-5.

  5. Porciello R, Divona L, Strano S, Carbone A, Calvieri C, Giustini S, et al. Leopard syndrome. Dermatol Online J [Internet]. 2008 [citado 14 Ene 2015];14:7. Disponible en: http://escholarship.org/uc/item/4p76479r

  6. Martínez-Quintana E, Rodríguez-González F. LEOPARD Syndrome: Clinical Features and Gene Mutations. Mol Syndromol. 2012;3:145-57.

  7. Legius E, Schrander-Stumpel C, Schollen, Pulles-Heintzberger C, Gewillig M, Fryns JP, et al. PTPN11 mutations in LEOPARD syndrome. J Med Genet. 2002;39:571-4.

  8. Laux D, Kratz C, Sauerbrey A. Common acute lym-phoblastic leukemia in a girl with genetically con-firmed LEOPARD syndrome J. Pediatr Hematol On-col. 2008;30:602-4.

  9. Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, et al. Síndrome LEOPARD: una variante del síndrome de Noonan con fuerte asociación a miocardiopatía hipertrófica. Rev Esp Cardiol. 2013;66:350-6.

  10. 10.Iwasaki Y, Horigome H, Takahashi-Igari M, Kato Y, Razzaque MA, Matsuoka R. Coronary artery dila-tation in LEOPARD syndrome. A child case and literature review. Congenit Heart Dis. 2009;4:38-41.




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