Gaucher's disease with mitral valve calcification

Sharratt, Geoffrey P.; Price, David E.; Curtis, Joseph; Cornel, Garry

doi:10.1007/bf00798223

Cited by 7 publications

(2 citation statements)

References 6 publications

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“…This patient was among the first described cases of Gaucher disease with cardiac involvement, oculomotor abnormalities, and hydrocephalus,1 features that were subsequently described in patients from Japan,2 3 Israel,4 Spain,5 6Turkey,7 8 Canada,9 and the USA10 11 (table 1). Interestingly, many of these patients were reported to be homozygous for the mutation D409H in the human glucocerebrosidase gene.…”

mentioning

confidence: 85%

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

Stone

2000

Journal of Medical Genetics

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mentioning

confidence: 85%

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

Stone

2000

Journal of Medical Genetics

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“…67 68 69 GDC is associated with cardiac hypertrophy and mitral and aortic valve calcification. 70 71 72 73 74 75 In a macrophage model of Gaucher disease, it was shown that although the lysosome is the primary site of GlcCer accumulation, at very high levels of GlcCer, it is distributed among various subcellular locations. This cellular saturation of GlcCer leads to increased levels of ceramides and other glycosphingolipids, 76 which interfere with other biochemical pathways and lead to cell dysfunction and the pathologies observed in Gaucher disease.…”

Section: Sphingolipids In Secondary Cardiomyopathiesmentioning

confidence: 99%

Sphingolipid Mediators of Myocardial Pathology

Kovilakath

Cowart

2020

J Lipid Atheroscler

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Cardiomyopathy is the leading cause of mortality worldwide. While the causes of cardiomyopathy continue to be elucidated, current evidence suggests that aberrant bioactive lipid signaling plays a crucial role as a component of cardiac pathophysiology. Sphingolipids have been implicated in the pathophysiology of cardiovascular disease, as they regulate numerous cellular processes that occur in primary and secondary cardiomyopathies. Experimental evidence gathered over the last few decades from both in vitro and in vivo model systems indicates that inhibitors of sphingolipid synthesis attenuate a variety of cardiomyopathic symptoms. In this review, we focus on various cardiomyopathies in which sphingolipids have been implicated and the potential therapeutic benefits that could be gained by targeting sphingolipid metabolism.

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Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement

Cındık

Özçay

Süren

et al. 2010

Clinical Cardiology

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A 14-year-old female with Gaucher disease presented with hydrocephalus, corneal opacities, cirrhosis, and cardiac valvular involvement. A homozygous D409H mutation was identified. She underwent surgery for aortic and mitral valve replacement. Because of severe calcification of the aortic root, no successful valve replacement was performed. She died on the third day after the explorative cardiac surgery. Cardiac abnormalities represent a life-threatening presentation of the homozygous D409H mutation. Identification of this type is essential prior to initiating appropriate therapy with enzyme replacement and cardiac corrective surgery.

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Gaucher's disease with mitral valve calcification

Cited by 7 publications

References 6 publications

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease

Sphingolipid Mediators of Myocardial Pathology

Gaucher Disease with Communicating Hydrocephalus and Cardiac Involvement

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