Echocardiographic abnormalities in the mucopolysaccharide storage diseases

Gross, Donald M.; Williams, Julian C.; Caprioli, Christine; Dominguez, Barbara; Howell, R. Rodney

doi:10.1016/0002-9149(88)91325-2

Cited by 64 publications

(54 citation statements)

References 12 publications

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“…13 More than 270 human patients with MPS have had results of cardiovascular system evaluations published. [26][27][28][29][30][31][32][33][34][35][36][37][38][39][40][41] Of these patients, the majority did not have a specific enzyme diagnosis. However, the largest group with an identified diagnosis was MPS I (Hurler syndrome, alphal-iduronidase deficiency).…”

Section: Figurementioning

confidence: 99%

Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII

Sammarco

Weil

Just

et al. 2000

Bone Marrow Transplant

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Summary:The genetic mucopolysaccharidoses (MPS) are a family of lysosomal storage diseases resulting from defective catabolism of glycosaminoglycans (GAGs). Echocardiographic abnormalities in dogs with MPS type VII (Sly syndrome, ␤-glucuronidase deficiency) included mitral valve thickening and insufficiency, large aortic dimensions in both the long and short axes, and thickened aortic valves. Grossly, at post mortem examination, there was nodular thickening of the mitral valve, a prominent ductus diverticulum, and a dilated aorta with thickened walls. Histologically, cytoplasmic vacuolation was seen in cells of the mitral valves, coronary arteries, and aorta. By electron microscopy, the cells of the mitral valve were packed with electron-lucent cytoplasmic vacuoles. The mean residual activity of ␤-glucuronidase in the aorta and myocardium was Ͻ1% of normal, the mean hexosaminidase A activity Ͼ2.5 times normal, and the mean GAG concentrations more than twice normal. In three MPS VII dogs that received heterologous BMT at 6 weeks of age, the echocardiographic abnormalities were improved, and the histopathologic and ultrastructural pathology was reduced. In the aorta and myocardium, the mean ␤-glucuronidase activity of the BMT group was 4.5% and 11% of normal, respectively, and the hexosaminidase A activity and GAG concentrations were normalized. Bone Marrow Transplantation (2000) 25, 1289-1297.

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Section: Figurementioning

confidence: 99%

Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII

Sammarco

Weil

Just

et al. 2000

Bone Marrow Transplant

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“…Gross et al have reviewed their cardiac findings in 29 children with mucopolysaccharidoses. They report valvular lesions, right ventricular hypertrophy, left ventricular hypertrophy and septa1 hypertrophy causing partial obstruction to the left ventricular outflow tract [21]. Coronary artery infiltration also occurs and is a common postmortem finding, but clinically is usually asymptomatic [22].…”

Section: Pre-operative Considerationsmentioning

confidence: 99%

Anaesthesia and mucopolysaccharidoses

et al. 1994

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summaryThe airway problems encountered during anaesthesia in all children with mucopolysaccharidoses presenting for a surgical procedure from 1988 to September 1991 are reviewed. Thirty-four patients underwent 89 anaesthetics for 110 procedures. The results reveal a high incidence of airway problems. The overall incidence of di@cult intubation was 25% and failed intubation 8%. In those children with Hurler's syndrome, the diflcult intubation incidence was 54% and failed intubation incidence 23%.Other potential anaesthetic problems such as cardiac anomalies and obstructive sleep apnoea are also reviewed.

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“…Understanding IEMs has an important clinical value because many IEMs have a disease-specific treatment [32]. IEM presents the largest group of conditions associated with pediatric cardiomyopathies, which consists infiltrative storage disorders, energy metabolism disorders, and disorders producing cardiotoxic intermediary metabolites [33][34][35][36][37][38][39][40][41][42][43]. The exact processes that IEMs may induce the onset of pediatric cardiomyopathies remains tenuous.…”

Section: Inborn Errors Of Metabolismmentioning

confidence: 99%

Pediatric cardiomyopathies: A review of literature on clinical status and meta-analysis of diagnosis and clinical management methods

Albakri¹

2018

Pediatr Dimensions

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Cardiomyopathies define a heterogeneous group of heart muscle disorders. They are an important cause of heart failure and a leading indication for heart transplantation in pediatric patients. Research on cardiomyopathy has however focused on the adult populations with fewer dedicated clinical trials investigating pediatric cardiomyopathy. Diagnosis and clinical management of pediatric cardiomyopathy are also challenging because of the lack of specific methods for diagnosis and treatment. Assessment of ventricular structure using absolute values in adults are not useful in children because of their constantly changing body surface area. Therapies developed for adults applied to pediatric patients also have had varied clinical outcomes. This paper therefore reviews existing research evidence on pediatric cardiomyopathy, with the objective of broadening its clinical understanding and management.

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Echocardiographic abnormalities in the mucopolysaccharide storage diseases

Cited by 64 publications

References 12 publications

Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII

Effects of bone marrow transplantation on the cardiovascular abnormalities in canine mucopolysaccharidosis VII

Anaesthesia and mucopolysaccharidoses

Pediatric cardiomyopathies: A review of literature on clinical status and meta-analysis of diagnosis and clinical management methods

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