Cardiac MRI identifies valvular and myocardial disease in a subset of ANO5-related muscular dystrophy patients

Srinivasan, R.; Yun, Pomi; Neuhaus, Sarah; Mohassel, Payam; Dastgir, Jahannaz; Donkervoort, Sandra; Schindler, Alice B.; Mankodi, Ami; Foley, A. Reghan; Arai, Andrew E; Bönnemann, Carsten G.

doi:10.1016/j.nmd.2020.07.001

Cited by 4 publications

(3 citation statements)

References 28 publications

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“…Mutations of this gene are responsible for muscular dystrophy, but a study also revealed cardiac disturbances in patients with bi-allelic mutations. 1/10 of these patients exhibited a bicuspid aortic valve, and 4/10 had a thickened aortic valve but without aortic stenosis or insufficiency [ 35 ]. Note that quite all these patients hold the c.191dup mutation leading to a p.N64Kfs insertion frameshift, which is the most common pathogenic variant in ANO5 -related muscle disease [ 35 , 54 ].…”

Section: Ion Channels In Aortic Valve Developmentmentioning

confidence: 99%

“…1/10 of these patients exhibited a bicuspid aortic valve, and 4/10 had a thickened aortic valve but without aortic stenosis or insufficiency [ 35 ]. Note that quite all these patients hold the c.191dup mutation leading to a p.N64Kfs insertion frameshift, which is the most common pathogenic variant in ANO5 -related muscle disease [ 35 , 54 ]. Once again, the mechanism linking the mutation to valvular abnormalities is unknown but might be related to intracellular Ca 2+ signaling since this channel is Ca 2+ -dependent.…”

Section: Ion Channels In Aortic Valve Developmentmentioning

confidence: 99%

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Ion Channels in the Development and Remodeling of the Aortic Valve

Simard

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Chaigne

et al. 2023

IJMS

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The role of ion channels is extensively described in the context of the electrical activity of excitable cells and in excitation-contraction coupling. They are, through this phenomenon, a key element for cardiac activity and its dysfunction. They also participate in cardiac morphological remodeling, in particular in situations of hypertrophy. Alongside this, a new field of exploration concerns the role of ion channels in valve development and remodeling. Cardiac valves are important components in the coordinated functioning of the heart by ensuring unidirectional circulation essential to the good efficiency of the cardiac pump. In this review, we will focus on the ion channels involved in both the development and/or the pathological remodeling of the aortic valve. Regarding valve development, mutations in genes encoding for several ion channels have been observed in patients suffering from malformation, including the bicuspid aortic valve. Ion channels were also reported to be involved in the morphological remodeling of the valve, characterized by the development of fibrosis and calcification of the leaflets leading to aortic stenosis. The final stage of aortic stenosis requires, until now, the replacement of the valve. Thus, understanding the role of ion channels in the progression of aortic stenosis is an essential step in designing new therapeutic approaches in order to avoid valve replacement.

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Section: Ion Channels In Aortic Valve Developmentmentioning

confidence: 99%

Section: Ion Channels In Aortic Valve Developmentmentioning

confidence: 99%

Ion Channels in the Development and Remodeling of the Aortic Valve

Simard

Aize

Chaigne

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

“…The spectrum of pathologies observed included reduced left ventricular ejection fraction, mild left ventricular hypertrophy and left atrial dilation, which can be suggestive for an early-stage dilative cardiomyopathy, a finding which had been described in ANO5 -patients before (see above). 24 …”

Section: Clinical and Genetic Findingsmentioning

confidence: 99%