Mitral, aortic, and coronary arteri...

Mitral, aortic, and coronary arterial disease have been described in the various mucopolysaccharidoses. We report the first prosperous combined aortic and mitral valve replacement in an adult female patient with unrelenting aortic and mitral stenosis appropriate to Scheie's syndrome, a mucopolysaccharide storage disease. the two annulae were of sufficient integrity for fit prosthetic placement, and the patient had an humdrum postoperative recovery.

(Chest 1989; 96:209-10)

Scheie's disease, first described by means of Harold G. Scheie and co-workers[1] in 1962 as a forme fruste of Hurler's disease, is a rare cause of valvular disease in adult patients with heart disease. Mitral, aortic, and coronary diseases have been described in the various forms of this inherited disorder, and fortunate valvular replacement has been infrequently described. We report the first prosperous combined aortic and mitral valve replacement in an adult with rigorous aortic and miral stenosis to be paid to Scheie's disease.

Case Report

A 42-year-old woman with Scheie's disease, documented from high levels of chondroitin sulfate B in the urine and typical clinical features, was admitted for diagnostic studies after late admissions for chest pain and congestive heart failure. Physical examination was notable for auscultatory findings compatible with significant aortic and mitral stenosis. A faint undertone of aortic insufficiency was also existing The remainder of the history and physical examination was significant for blindness with bilateral corneal opacities, status postventriculoperitoneal switch for hydrocephalus, bilateral carpal subterranean passage syndrome in the past, and flexion deformities of the pair wrists. She was receiving ketoconazole for bipolaris spicifera chronic meningitis.

The ECG revealed normal sinus verse left artrial enlargement, and poor R-wave progression. Echocardiography confirmed the clinical impression of aortic and mitral stenosis. A cardiac catheterization was performed, which revealed an aortic valve gradient of 100 mm Hg with a calculated aortic valve area of 05 sq cm and a mitral valve gradient of 16 mm Hg with a calculated area of 09 sq cm The mean pulmonary capillary wedge squeezing was 20 mm Hg. There was no significant valvular regurgitation, and there was no evidence of coronary artery disease. At surgery the valves were fiercely diseased and calcified. The aortic valve was extremely stenotic and calcified and had irregularities onward the edges of the valve, resembling dyplastic nodules (Fig 1) The mitral valvular chordae were thickened, and the valve was foreshortened and stenotic (Fig 2) The aortic valve was replaced with a 20-mm Hall valve (Medtronic) and the mitral valve with a 25-mm St Jude mitral prosthesis. The patient's postoperative course was monotonous and she was discharged 12 days later.

Discussion

Cardiac involvement in the mucopolysaccharidoses is universal and has been reported in all forms.[1-4] Echocardiographic abnormalities in these storage diseases have been reported, with patchy thickening of the valves and other associated echocardiographic abnormalities noted.[4-6] Scheie's syndrome has been associated with mitral and aortic valve involvement, either stenotic, insufficient, or both[5]

The clinical manifestations of Scheie's disease include corneal clouding and mild to moderate skeletal malformations, with broad hands and short truncated feet common. Joint abnormalities with fixation of the phalangeal joints are seen Mental retardation is unwonted and high intelligence is not out of the way Four of the ten patients initially described were adults; thus, survival beyond infancy is for the use of all as opposed to Hurler's disease, in which this is unusual The diagnosis is confirmed from demonstration of high quantities of mucopolysaccarides in the urine and characteristic abnormalities upon skin biopsy, also seen in Hurler's syndrome[1]

Aortic stenosis in a different representation of mucopolysaccharidosis was recently described in a 43-year-old man with Maroteaux-Lamy syndrome who underwent aortic valve replacement and had a proper long-term results.[7] The mitral valve is the greatest in quantity frequently involved in this variant of Hurler's syndrome and insufficiency is the more often met with manifestation, although mitral stenosis is seen While aortic involvement is described in Scheie's syndrome precise definition of which is more public is unknown.

Surgical treatment of the cardiac malformations in this syndrome have not been reported at short intervals perhaps due to caution intimateed by some for potential surgical difficulties.[8] Our patient, as those previously described, had an commonplace postoperative course and recovery, and the couple annulae were of sufficient integrity for serviceable prosthetic valvular placement.

References

[1] Scheie HG Hambrick GW Barness LA. A newly recognized forme fruste of Hurler's disease (Gargoylism). Am J Opthalmol 1962; 53:753-69

[2] McKusick VA. Heritable disorders of connective tissue, 4th ed St. Louis: CV Mosby 1972:521-686