Combined Aortic and Mitral Valve Replacement in an Adult with Scheie's Disease

Butman, Samuel M.; Karl, Linda; Copeland, Jack G.

doi:10.1378/chest.96.1.209

Cited by 33 publications

(23 citation statements)

References 4 publications

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“…Aortic incompetence is the usual finding in adult patients with MPS IV: some of these develop progressive cardiorespiratory disease secondary to their restricted chest movement, while others showing severe expression of the disease may die because of heart failure in the second or third decade [11]. Successful double (aortic and mitral) or single valve replacements have been reported for MPS I H/S or MPS I S and even in selected cases of MPS VI [12]. In animal models of MPS, echocardiographic abnormalities have improved and histopathologic/ultrastructural signs were reduced only 6 weeks after heterologous bone marrow transplantation [13, 14, 15].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Structural Involvement in Mucopolysaccharidoses

Rigante¹,

Segni²

2002

Cardiology

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Mucopolysaccharidoses (MPS) are lysosomal storage disorders due to impaired glycosaminoglycan degradation. Cardiac involvement is present in most patients with MPS although its clinical impact is still undetermined. Cardiovascular abnormalities were evaluated in 39 patients with MPS aged 4–22 years. Valvular lesions and different forms of cardiac involvement were detected. The most common lesion was thickening of the mitral valve with regurgitation or stenosis, regardless of the MPS type. Mitral valve thickening was observed in 23 patients, aortic valve thickening in 11 patients and congestive heart failure in only 1 patient with MPS III. The most severe changes were registered for MPS types I and II. Complete cardiological investigation should be routinely warranted in every patient inflicted with MPS.

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Section: Discussionmentioning

confidence: 99%

Cardiac Structural Involvement in Mucopolysaccharidoses

Rigante¹,

Segni²

2002

Cardiology

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“…The early onset and rapid progression of cardiovascular disease require management of symptoms (6)(7)(8)(9)(10). Therapeutic interventions for children and adults with LSD and later-onset heart problems include bone marrow (BM) transplantation postmyeloablation (11)(12)(13) and surgical replacement of damaged arteries and valves (14)(15)(16), although this treatment is rarely used (17). Both create attendant risks to the patient and neither are currently feasible treatments for infants, many of whom succumb to heart and respiratory problems within the first year of life.…”

mentioning

confidence: 99%

Electrocardiographic and other cardiac anomalies in β-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation

Schuldt

Hampton

Chu

et al. 2004

Proc. Natl. Acad. Sci. U.S.A.

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Cardiovascular manifestations of lysosomal storage disease (LSD) are a significant health problem for affected patients. Infantileonset cardiac disease, because of its rapid progression, is usually treated symptomatically. Therapy in older patients includes valve replacement and bone marrow (BM) transplantation, both of which are life threatening in the already debilitated patients. Enzyme replacement therapy has potential benefit but has not yet been demonstrated to provide long-term relief for cardiac disease. Here, we demonstrate prevention of severe cardiac manifestations in ␤-glucuronidase (GUSB) null mice BM-transplanted i.v. as neonates without myeloablative pretreatment. The mice, a model of mucopolysaccharidosis type VII (MPSVII, Sly syndrome), develop progressive LSD unless provided with GUSB early in life. The BM recipients retained GUSB؉ donor cells in the peripheral blood and heart until necropsy at >11 months of age. The enzyme ␤-hexosamindase increased in tissues of GUSB null MPSVII mice was reduced significantly (P ‫؍‬ 0.001) in treated MPSVII hearts. Electrocardiography demonstrated normalization of heart rate, PR, PQ, and QRS intervals in BM recipients. Storage was markedly reduced in the stroma of heart valves, adventitial cells of the aortic root, perivascular and interstitial cells of the myocardium, and interstitial cells of the conduction tissue. Heart͞body weight ratio normalized. The aortic root was still grossly distended, and the conductive myocytes retained storage, suggesting neither plays a major role in ECG normalization. We conclude that transplantation of MPSVII neonates without toxic intervention can prevent many of the cardiovascular manifestations of LSD.

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“…There are 2 reports of valve replacement for Maroteaux-Lamy Syndrome (MPS type IV), 5,6 and 2 reports of valve replacement for Scheie's syndrome. 7,8 Several reports described problems with intubation due to airway disease, such as enlarged tongue, tonsils and adenoids, and narrowed lower airway. 6 Conscious intubation with the aid of a fibroptic bronchoscope before anesthetic induction was used successfully in the 2 patients presented here, and other reports have advocated similar methods.…”

Section: Discussionmentioning

confidence: 99%

Surgical Treatment for Scheie's Syndrome (Mucopolysaccharidosis Type I-S)

et al. 1998

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Jpn Circ J 1998; 62: 700 -703 Kenji Minakata, MD; Yutaka Konishi, MD; Masahiko Matsumoto, MD; Senri Miwa, MD Scheie's syndrome (mucopolysaccharidosis type I-S) is a rare genetic lysosomal storage disease affecting mucopolysaccharide metabolism, and is known to include cardiovascular disease. Surgical treatment was carried out in 2 patients with Scheie's syndrome. Patient 1 was a 56-year-old man with triple-vessel coronary artery disease, who successfully underwent coronary artery bypass grafting. Patient 2 was a 52-year-old man with aortic and mitral valve stenosis, who successfully underwent combined aortic and mitral valve replacement. The literature on Scheie's syndrome associated with valvular and coronary artery disease is also reviewed. (Jpn Circ J 1998; 62: 700 -703) Key Words: Coronary artery bypass grafting; Scheie's syndrome; Valve replacement (Received February 20, 1998; revised manuscript received April 6, 1998; accepted April 16, 1998

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Combined Aortic and Mitral Valve Replacement in an Adult with Scheie's Disease

Cited by 33 publications

References 4 publications

Cardiac Structural Involvement in Mucopolysaccharidoses

Cardiac Structural Involvement in Mucopolysaccharidoses

Electrocardiographic and other cardiac anomalies in β-glucuronidase-null mice corrected by nonablative neonatal marrow transplantation

Surgical Treatment for Scheie's Syndrome (Mucopolysaccharidosis Type I-S)

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