Valvular Commitment in Hunter Syndrome
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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.
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