Sudden death in Hunter syndrome caused by complete atrioventricular block

Hashizume, Takumi; Wakita, Suguru; Isoda, Takayoshi; Katori, Tatsuo; Ishizawa, Atsushi; Okada, Ryozo

doi:10.1016/s0022-3476(00)70117-x

Cited by 28 publications

(24 citation statements)

References 2 publications

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“…The early onset of heart manifestations suggests heart failure may be a cause of death. Sudden death occurs in 11% of patients with MPS, at least one of whom had an abnormality of the cardiac conduction system with first-degree atrioventricular block (48).…”

Section: Discussionmentioning

confidence: 99%

“…Alternatively, a change in the character of the interstitial extracellular connective tissue without morphologic correlate but related to more normal glycosaminoglycan metabolism by interstitial cells could also impact conduction velocity. Sudden death in a patient with Hunter syndrome occurred during Holter ECG examination and was traced to atrioventricular block (48). Loss of 70% of the cells in the penetrating portion of the bundle of His was noted at autopsy.…”

Section: Discussionmentioning

confidence: 99%

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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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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

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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“…71 Conduction abnormalities are rare in pediatric population, and might probably be prevented by enzyme replacement therapy or hematopoietic stem cell transplantation.…”

Section: Tissue Conduction Anomaliesmentioning

confidence: 99%

Molecular Basis, Diagnosis and Clinical Management of Mucopolysaccharidoses

2013

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Mucopolysaccharidoses (MPSs) are a group of hereditary, monogenic disorders caused by lysosomal storage of glycosaminoglycans. Their incidence as a group is between 1:25,000 and 1:45,000. At present 11 different enzyme deficiencies are know to be responsible of 7 similar but distinct diseases. The diagnosis is suspected clinically but must be confirmed through biochemical, enzymatic and molecular analysis. Prenatal diagnosis is feasible for each disease. The phenotype worsens with age, due to progressive storage, and mainly involves mucosal tissue, upper airways and lungs, bones and joints, central and peripheral nervous system, heart, liver, eye and ear. Any type of MPSs, is characterized by a wide variability of phenotype ranging from a severe fetal-neonatal disease to an attenuated form diagnosed in adult individuals. Recently new treatments, like hematopoietic stem cell transplantation and enzymatic replacement therapy, became available for many of these disorders entailing the urgency of early diagnosis to allow access to therapies. Thanks to therapies these patients have a longer life than in the past and this implies that also palliative treatments, of which the cardiological ones have a prominent part, must be undertaken diligently. The cardiologist may face, more frequently than expected, with the need to diagnose a patient with MPS who was not recognized by other specialists. The echocardiographic features of these patients are typical and may help in the clinical diagnosis. The future probably deserves to these disorders other new treatments or combination therapies, which might further improve prognosis of these diseases

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“…Death often occurs between the ages of 20 and 30 years from cardiac or respiratory disease [2]. Deposition of GAGs in the heart leads to cardiomyopathy or cardiac valve dysplasia [2][3][4]. High prevalences of cardiac manifestations including any cardiovascular sign and symptom (82%), valvular disease (57%) and cardiomyopathy (8%) have been reported in a multinational long-term outcomes survey on Hunter syndrome [5,6].…”

Section: Introductionmentioning

confidence: 99%