Ann Thorac Surg 2007;84:654-655
© 2007 The Society of Thoracic Surgeons
Case Reports
Surgical Treatment for Mitral Stenosis in Scheie’s Syndrome: Mucopolysaccharidosis Type I-S
Katsukiyo Kitabayashi, MD,
Goro Matsumiya, MD, PhD*,
Hajime Ichikawa, MD, PhD,
Hajime Matsue, MD, PhD,
Kazuo Shimamura, MD,
Yoshiki Sawa, MD, PhD
Division of Cardiovascular Surgery, Department of Surgery, Osaka University Graduate School of Medicine, Osaka, Japan
Accepted for publication March 15, 2007.
* Address correspondence to Dr Matsumiya, 2-2 Yamadaoka, Suita, Osaka, 565-0871, Japan (Email: matsumg{at}surg1.med.osaka-u.ac.jp).
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Abstract
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Scheie’s syndrome is a subtype of mucopolysaccharidosis, which is a rare hereditary disorder of proteoglycan degrading enzymes. Deposition of mucopolysaccharide often causes cardiac disease, especially valvular lesion, but reports of its surgical treatment have been rare. We report a case of 41-year-old woman with Sheie’s syndrome who successfully underwent mitral valve replacement for mitral stenosis.
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Introduction
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Mucopolysaccharidosis (MPS) is a hereditary disorder of proteoglycan degrading enzymes, and it is classified into six subtypes based on biochemical, clinical, and genetic aspects [1]. Sheie’s syndrome (MPS type I-S) is an autosomal recessive hereditary disorder that was first described in 1962 [2]; it is characterized by a deficiency of the enzymatic activity of lysosomal 
-L-iduronidase. Accumulation of mucopolysaccharide occurs in many tissues and causes their abnormalities. Short neck, stiff joints, and claw hands are typical features of Sheie’s syndrome, but these patients have normal intelligence [3]. Cardiac involvement is present in 76% of patients who have Sheie’s syndrome [4]. The mitral valve is the most common lesion (42% clinically symptomatic), followed by the aortic valve (20%). Myocardium involvement often causes myocardial hypertrophy and resultant diastoloic dysfunction [5].
Although only four operative case reports of Sheie’s syndrome are found in past literature, these reports have raised several complicated problems in the surgical treatment. We report our experience of a 41-year-old woman with Sheie’s syndrome who underwent mitral valve replacement for mitral stenosis.
The patient is a 41-year-old woman with a history of MPS type I-S. She started to have dyspnea on exertion 7 years prior, and the diagnosis of mitral stenosis was made by echocardiography. The symptoms worsened to New York Heart Association functional class III in the last 2 years. She suffered cerebral infarction 3 months prior to her surgery, but had no residual neurologic symptoms. She was admitted to our hospital for further management. She was 148 cm tall and weighed 37.5 kg. Echocardiography showed severe mitral valve stenosis (mitral valve area, 0.90 cm2) and a large left atrium (diameter, 49 mm). Leaflet, chordae tendinae, and papillary muscle were severely thickened and fused to each other (Fig 1). Left ventricular hypertrophy was present (ie, left ventricular posterior wall thickness was 10 mm) and ejection fraction was 77%. Mild aortic stenosis and mild tricuspid regurgitation were also demonstrated. Cardiac catheterization showed severe pulmonary hypertension with a systolic pulmonary artery pressure of 62 mm Hg and a pulmonary wedge pressure of 29 mm Hg. Mitral valve replacement was indicated from these findings.
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Fig 1. Parasternal view of preoperative transthoracic echocardiography. (A) Long axis and (B) short axis of severely thickened mitral valve leaflet, fusing chordae tendinae and unclear borderline from the left atrial wall were demonstrated (white arrows). (Ao = aorta; LA = left atrium; LV = left ventricle; RV = right ventricle.)
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In spite of macroglossia and short neck, which are the typical features of Sheie’s syndrome, intubation was completed smoothly. Under cardiopulmonary bypass and cardioplegic cardiac arrest, mitral valve replacement was performed with an ATS 20-mm mechanical valve (ATS Medical, Minneapolis, MN). It was very difficult to identify the border between the leaflet and annulus, because of the continuous shiny appearance of the mitral leaflet and left atrial wall. We resected the leaflet carefully together with chordae and papillary muscles. We reinforced the valve suture line by suturing an equine pericardial patch between the valve ring and left atrial wall, because the cut ends of the leaflets were hard and not pliable. Aortic cross-clamp time was 105 minutes. Trial of weaning from cardiopulmonary bypass was unsuccessful because of low output, severe pulmonary hypertension, and ventricular tachycardia. Transesophageal echocardiography showed normal systolic function and valve opening, which suggested that severe diastolic dysfunction of the left ventricle might be the main cause of hemodynamic deterioration. She could not be weaned from cardiopulmonary bypass, despite the support of intraaortic balloon pumping.
Because her left femoral artery and vein were too small for cannulation, central cardiopulmonary support with extracorporeal membrane oxygenation circuit was established, and she was transferred to intensive care unit.
Her resected mitral valve was severely thickened and the chordae were fused to each other. Microscopically there were many periodic acid-Schiff stained positive, irregular cells (gargoyle cells) seen (Fig 2).
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Fig 2. Many periodic acid-Schiff stained positive, foamy, irregular cells (deposition of mucopolysaccharide) called "gargoyle cells" were observed in the resected leaflet. (Periodic acid-Schiff stain; x400.)
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After adequate medical treatment, diastolic dysfunction and ventricular tachycardia were controlled. Cardiopulmonary support was removed 2 days after the operation, and intraaortic balloon pumping was removed on postoperative day 3. She was extubated on postoperative day 5 with no respiratory complication. She has been doing well for 11 months since the operation. Postoperative echocardiography shows good prosthetic valve function with no paravalvular leakage and no progression of the other cardiac lesions.
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Comment
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When we plan the management of mitral valvular lesion in patients with Scheie’s syndrome, several considerations need to be clarified. First point is a selection of valve prosthesis and implantation technique. As with the other patients with Scheie’s syndrome, our patient has normal intelligence and a normal life expectancy if cardiac involvements are properly managed. Therefore we used the mechanical valve, as generally recommended in this age group of patients. Because the body size of patients with MPS is generally small and the valvular annulus is thickened, only smaller sized prosthetic valves can be implanted. In addition, the surgical procedure for the MPS patient is complicated with poor tissue quality and less flexibility of the annulus [6, 7]. In our case, mitral valvular annulus was friable too, and poor attachment with this tissue and prosthesis cuff was concerned. Therefore we used equine pericardial patch as the reinforcement, which may be a useful adjunct to prevent valve dehiscence and paravalvular leakage in this difficult annular condition that is specific in MPS patients. The postoperative courses were sometimes complicated in the past case reports because of poor left ventricular performance. Intraaortic balloon pumping was inserted at the time of weaning cardiopulmonary bypass because of low cardiac output in two cases [6]. We also had to use intraaortic balloon pumping and central cardiopulmonary support because of severe diastolic dysfunction and ventricular tachycardia. Pre-existing myocardial hypertrophy and cardiac edema may have been a suspected cause of this severe form of diastolic dysfunction. They often have restrictive lung disease, macroglossia, and lower airway obstruction; therefore a tracheostomy is often needed in the intensive care unit for airway obstruction [7].
Because involvements of the aortic and tricuspid valve and coronary artery are also progressive in patients who have MPS, we must continue to carefully follow-up the other cardiac lesions in these patients.
In conclusion, we report a surgical case of mitral stenosis in Scheie’s syndrome (mucopolysaccharidosis type I-S). Careful resection of leaflets and valve implantation are mandatory. Myocardial protection is of great importance because of pre-existing myocardial change from mucopolysaccharide deposition.
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References
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- Mckusick VA, Neufeld EF, Kelly TE. The mucopolysaccharide storage disease, the metabolic basis of inherited disease. 4th ed.. New York, NY: McGraw Hill; 1978. pp. 1282-1307.
- Sheie HG, Hambrick GW, Barness LA. A newly recognized forme furste of Hurler’s disease (GARGOYRISM) Am J Opthalmol 1962;53:753-769.[Medline]
- Pierpont MEM, Moller JH. Heat disease in infants, children, and adolescents including the fetus and young adult. 5th ed.. Philadelphia, PA: Lippincott Williams & Wilkins; 2005. pp. 1486-1520.
- Rigante D, Segni G. Cardiac structural involvement in mucopolysaccharidosis Cardiology 2002;98:18K-20K.
- Okada R, Rosenthal IM, Scaravelli G, et al. A histopathological study of the heart in gargoylism Arch Path 1967;84:20-30.[Medline]
- Bhattacharya K, Gibson SC, Pathi VL. Mitral valve replacement for mitral stenosis secondary to Hunter’s syndrome Ann Thorac Surg 2005;80:1911-1912.[Abstract/Free Full Text]
- Minakata K, Konishi Y, Matsumoto M, et al. Surgical treatment for Scheie’s syndrome (mucopolysaccharidosis type I-S) Jpn Circ J 1998;62:700-703.[Medline]
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Abstract
Introduction
