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Ann Thorac Surg 2005;80:1911-1912
© 2005 The Society of Thoracic Surgeons

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Case report

Mitral Valve Replacement for Mitral Stenosis Secondary to Hunter's Syndrome

Department of Cardiothoracic Surgery, Western Infirmary, Glasgow, United Kingdom

Accepted for publication June 4, 2004.

^_* Address correspondence to Dr Bhattacharya, Department of Cardiothoracic Surgery, Western Infirmary, Glasgow, G11 6NT, UK (Email: k.bhattacharya{at}clinmed.gla.ac.uk).

	Abstract

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Hunter's syndrome is a rare, X-linked recessive, mucopolysaccharidosis. Survival into adulthood is uncommon. Mitral valve disease, predominantly regurgitation, has been reported in these patients. We have found no reports of mitral valve replacement for mitral stenosis secondary to Hunter's syndrome in the English literature. We report that mitral valve replacement for this pathology is a viable treatment option in an adult patient; however, specific precautions must be considered.

	Introduction

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Hunter's syndrome, first described in 1917 [1] is a rare, X-linked recessive, mucopolysaccharidosis, which is characterized by intracellular deposition and increased urinary excretion of mucopolysaccharidosis (glycosaminoglycans). Severe (type A) and mild (type B) are clinically recognized entities. Mitral valve regurgitation secondary to Hunter's syndrome is rare, while mitral stenosis is even less common. We have found no reports of successful mitral valve replacement for mitral valve stenosis in the English literature.

A 28-year-old male with characteristic morphologic features of Hunter's syndrome: short stature, enlarged head, prominent supraorbital ridged, broad nose, thickened lips, and macroglossia presented to our institution. Additional disabilities included deafness and impaired vision secondary to optic atrophy. His weight was 27 kg and his height was 128 cm. Genetic diagnosis was confirmed by identifying a mutation on the fifth base pair of the Hunter's syndrome gene. A positive family history and previous urinalysis also supported the diagnosis.

He was known to have chronic mitral stenosis (confirmed by serial echocardiography). However, he was admitted to the referring hospital with acute cardiac failure precipitated by the onset of new atrial fibrillation. He was commenced on digoxin, warfarin, and high dose diuretic (4 mg bumetanide). Despite treatment there was little clinical improvement. Initially he was referred to the cardiologists for balloon valvuloplasty. However, transesophageal echocardiography demonstrated commissural fusion, thickened leaflets with extensive infiltration, and subvalvular involvement of the disease. The mitral valve area was 0.95 cm² (two years prior the area was 1.4 cm²). The left atrium measured 5.3 cm. After a case conference it was deemed that balloon valvuloplasty would only be a palliative measure, and as the patient had survived into his twenties, mitral valve replacement would be the best treatment option. Therefore, surgery was undertaken.

Endotracheal intubation was complicated by the characteristic features of Hunter's syndrome described above. The central line insertion required ultrasound guidance because of the unusual anatomy, in particular the patient's kyphoscoliosis.

The chest was entered through a median sternotomy and the patient was placed on aortobicaval cardiopulmonary bypass at a temperature of 32°C and a flow rate of 2.35 L/min. The aortic cross clamp was applied and one liter of cold crystalloid cardioplegia was infused into the aortic root. The heart arrested promptly. The left atrium was entered through Sondergaard's groove. The mitral leaflets and chordae tendinae were grossly thickened (Fig 1). Both leaflets were excised and sent to pathology, where the diagnosis was confirmed. A 23 mm St Jude Masters mitral valve (St Jude Medical Inc, St Paul, MN) was implanted. He was weaned from cardiopulmonary bypass with an intraaortic balloon pump (IABP), adrenaline, noradrenaline, and renal dose dopamine.

View larger version (150K): [in this window] [in a new window]   Fig. 1. The mitral leaflets and chordae tendinae appear grossly thickened after excision.

	Comment

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The mucopolysaccharidoses are a group of hereditary disorders that are characterized by intracellular deposition of mucopolysaccharides and glycolipids. The increased mortality of patients with these disorders is attributable to a combination of restrictive lung disease, respiratory infections, and valvular heart disease [2]. There have been few reports of the mucopolysaccharidoses causing mitral stenosis [3].

Characteristic echocardiographic features for this group of pathologies have been described [4]. Echocardiographic diagnostic criteria of Hunter's syndrome has been described in the Japanese literature by Hada and colleagues, in 1982 [5].

There are reports of mitral valve [6] and double valve (aortic and mitral) replacement [7] in patients with Maroteaux-Lamy syndrome. Recently, Fischer and colleagues [8] also reported combined aortic and mitral valve replacement secondary to the Ullrich-Sheie syndrome. However, we have found no cases in the English literature of surgery for mitral valve stenosis secondary to Hunter's syndrome.

Hunter's syndrome is characterized by a defect in the enzyme iduronate sulfatase. It differs from the other mucopolysaccharidoses in that it is X linked. Its occurrence is 1 in 40,000 with 33% of cases being new mutations. Patients with the severe form usually die in childhood, while those with the mild form survive into the late teens and early adulthood [9]. Therefore, surgical assessment of these patients is rare. A preoperative strategy is required to deal with the specific problems posed by these patients.

Central venous access is complicated by anomalous anatomy. Therefore, ultrasound guidance was used. Intubation is complicated by the macroglossia and short tracheal length. A rigid bronchoscope was used to inspect the trachea. A laryngeal mask airway was positioned in the correct place and a shortened gauge 6 endotracheal tube was passed through it to enter the trachea. Surgery is complicated by poor tissue quality, small cardiac chambers in a small mediastinum, and no clear demarcation between the annulus and the valve leaflets. Early tracheostomy was performed due to macroglossia and the possibility of sudden death due to airway obstruction. This patient was vasodilated; therefore, noradrenaline was commenced. He did require an IABP and adrenaline in the early postoperative period. This could have been due to either myocardial stunning or a reduction in compliance because of the intracellular deposition of mucopolysaccharides and glycolipids.

Although patients with Hunter's syndrome may rarely be referred for surgery, they should be offered this treatment option. Preoperative planning plays an important role in the outcome.

	References

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1. Hunter CA. A rare disease in two brothers. Proceedings of the Royal Society of Medicine, London. 1917;10:104–16..
2. Semenza GL, Pyeritz RE. Respiratory complications of mucopolysaccharide storage disorders Medicine 1988;67:209-219.[Medline]
3. Ireland MA, Rowlands DB. Mucopolysaccharidosis type 4 as a cause of mitral stenosis in an adult Br Heart J 1981;46:113-115.[Free Full Text]
4. Johnson GL, Vine DL, Cottrill CM, Noonan JA. Echocardiographic mitral deformity in the mucopolysaccharidoses Pediatrics 1981;67:401-406.[Abstract/Free Full Text]
5. Hada Y, Lee Y, Sakamoto T. Echocardiographic manifestations of the heart in the Hunter syndromereport of a case. J Cardiogr 1982;12(4):1043-1053.[Medline]
6. Marwick TH, Bastian B, Hughes CF, Bailey BP. Mitral stenosis in the Maroteaux-Lamy syndromea treatable cause of dyspnoea. Postgraduate Med J 1992;68:287-288.[Abstract/Free Full Text]
7. Hachida M, Nonoyama M, Bonkohara Y, Koyanagi H. Combined aortic and mitral replacement in an adult with mucopolysaccharidosis (Maroteaux-Lamy syndrome) Heart Vessels 1996;11:215-217.[Medline]
8. Fischer TA, Lehr H-A, Nixdorff U, Meyer J. Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Sheie syndrome) Heart 1999;81:97-99.[Abstract/Free Full Text]
9. Neufield EF, Muenzer J. The mucopolysaccharidosesIn: Scriver, et al. editor. The metabolic and molecular bases of inherited disease. New York, NY: McGraw-Hill; 2001. pp. 3428-3430.

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This Article Abstract Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to Personal Folders Download to citation manager Author home page(s): Kausik Bhattacharya Vivek L. Pathi Permission Requests Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Bhattacharya, K. Articles by Pathi, V. L. Search for Related Content PubMed PubMed Citation Articles by Bhattacharya, K. Articles by Pathi, V. L. Related Collections Valve disease