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2012, Number 3

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Cuba y Salud 2012; 7 (3)

Severe mitral valve prolapse in a patient with Ehlers-Danlos syndrome

Santos PA, Mirabal OJA, Valero HA, Alonso JI
Full text How to cite this article

Language: Spanish
References: 10
Page: 37-41
PDF size: 787.28 Kb.


Key words:

Mutation, Collagen, Collagen diseases.

ABSTRACT

Ehlers-Danlos syndrome is an uncommon finding in clinical practice and is characterized by a series of hereditary disorders of connective tissue. Some patients present with cardiovascular repercussions and the structure most commonly affected is the mitral valve, on many occasions requiring valve replacement surgery. A 51 year old patient presents with a diagnosis of Ehlers-Danlos syndrome with a sever mitral valve prolapsed and repeated episodes of infectious endocarditis. Due to their clinical deterioration a prosthetic mechanical valve replacement surgery is decided upon. Clinical and intracardiac hemodynamic parameter improvements were shown after the surgery was applied, with a minimum of postoperative complications.


REFERENCES

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  2. Prieto CL, Rivas IL, Toral JF, Barrajón PM. Ehlers-Danlos syndrome type I: Importance of genetics diagnosis. An Pediatr (Barc). 2010;72(2):157-9.

  3. Germain D. Ehlers-Danlos syndrome type IV. Orphanet J Rare Dis. 2007; 2:32.

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  5. Salem DN, O’ Gara PT, Madias C, Pauker SG. Valvular and structural heart disease. American College of Chest Physicians Evidence- Based Clinical Practice Guidelines (8th Edition). Chest. 2008;133(6):593-629S

  6. Menoni-Blanco BJ, Pérez NM, López JA. Cardiopatía valvular en fase dilatada en paciente con Síndrome de Ehlers-Danlos. CIMEL. 2010;15(1).

  7. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos Syndromes: revised nosology, Villefranche, 1997. Am J Med Genet 1998;77:31-7.

  8. Boudoulas H, Sparks E, Wooley CF. The floppy mitral valve, mitral valve prolapse, and mitral valvular regurgitation. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adults, 7th Edition, 2008.

  9. Barry G, David E. Congenital mitral insufficiency. Moss and Adams’ Heart Disease in Infants, Children, and Adolescents: Including the Fetus and Young Adults, 7th Edition. Chapter 46, 2008.

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Cuba y Salud. 2012;7