Valvular Commitment in Hunter Syndrome

  • Manuela Xavier Cajado Sampaio
  • Pedro Guimarães Silva
  • Eugênio Antônio Mascarenhas Colonnezy
  • Roque Aras Júnior
  • André Maurício Souza Fernandes


A 30-year-old white male patient with a past history of rheumatic fever presented to the hospital with an exacerbation of a 6-month-old progressive dyspnea, accompanied by pallor and lipothymia. At the occasion, both mitral and aortic valves showed features compatible with rheumatic valvulopathy on echocardiographic assessment. Despite the severity of the valvular lesion, the patient refused to undergo surgical treatment, maintaining only spaced doses of benzathine penicillin.

The patient displays a series of deformities since his infancy, such as thoracic-wall dysmorphism (pectus excavatum), bilateral reduction of visual acuity, abnormal gait, and multiple permanent osteoarticular deformities. There was no cognitive deficit or developmental delay nor any report of another known case of genetic disease in the family. In spite of having undergone medical evaluations during childhood, no genetic testing or assessment was performed at the time.

At examination, he presented good general aspect, with preserved orientation of time/space; eupneic, with pink/red and hydrated mucosae; afebrile, anicteric; and acyanotic. His physical dysmorphisms comprised a large-bridged nose with a saddlelike morphology, rude facial expressions, a deformed dental arcade with short and protruding teeth, asymmetrical pectus excavatum and kyphoscoliosis with a right-sided deflection, long superior and inferior limbs with articular misalignment, rigidity, thick fingers, and a “claw-like” disposition of both hands. He presented a moving precordium, with a palpable ictus at the encounter of the 6th intercostal space and the anterior axillary line, and split of S2 along with a hyperphonesis of its pulmonary component. There was also a mesosystolic murmur in crescendo-decrescendo with fremitus that radiated to the neck at the aortic auscultation site. The abdomen presented a prominent and painful to touch hepatomegaly and splenomegaly, along with an inguinal herniation on the right side.

During follow-up, the patient eventually accepted to undergo cardiac surgery for valvular replacement.


  1. 1.
    Cunningham M. T cell mimicry in inflammatory heart disease. Mol Immunol Feb. 2004;40(14–15):1121–7.CrossRefGoogle Scholar
  2. 2.
    Remenyi B, et al. Valvular aspects of rheumatic heart disease. Lancet. 2016;387(10025):1335–46.CrossRefGoogle Scholar
  3. 3.
    Neufeld E, Muenzer J. The mucopolysaccharidoses. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw- Hill; 2001. p. 3421–52.Google Scholar
  4. 4.
    Chen MR, Lin SP, Hwang HK, Yu CH. Cardiovascular changes in mucopolysaccharidoses in Taiwan. Acta Cardiol. 2005;60:51–3.CrossRefGoogle Scholar
  5. 5.
    Dangel JH. Cardiovascular changes in children with mucopolysaccharide storage diseases and related disorders: clinical and echocardiographic findings in 64 patients. Eur J Pediatr. 1998;157:534.CrossRefGoogle Scholar
  6. 6.
    Leal GN, de Paula AC, Leone C, Kim C. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young. 2010;20:254–61.CrossRefGoogle Scholar
  7. 7.
    Burke AP. Pathology of Rheumatic Heart Disease; 2015. Available: Upload: 15 Oct 2015.
  8. 8.
    Braunlin EA, Harmatz PR, Scarpa M, Furlanetto B, Kampmann C, Loehr JP, Ponder KP, Roberts WC, Rosenfeld HM, Giugliani R. Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management. J Inherit Metab Dis. 2011;34:1183–97.CrossRefGoogle Scholar
  9. 9.
    Special Writing Group of the Committee on Rheumatic Fever, Endocarditis, and Kawasaki Disease of the Council on Cardiovascular Disease in the Young of the American Heart Association. Guidelines for the diagnosis of rheumatic fever. Jones Criteria, 1992 update. JAMA. 1992;268(15):2069–73. Erratum in: JAMA 1993 Jan 27;269(4):476.Google Scholar
  10. 10.
    Vahanian A, Alfieri O, Andreotti F. ESC/EACTS guidelines on the management of valvular heart disease. Eur Heart J. 2012. & Eur J Cardiothorac Surg.

Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  • Manuela Xavier Cajado Sampaio
    • 1
  • Pedro Guimarães Silva
    • 2
  • Eugênio Antônio Mascarenhas Colonnezy
    • 2
  • Roque Aras Júnior
    • 2
  • André Maurício Souza Fernandes
    • 2
  1. 1.Salvador University (UNIFACS)SalvadorBrazil
  2. 2.Federal University of Bahia (UFBA)SalvadorBrazil

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