Publications by authors named "X Jeanrenaud"

Article Synopsis
  • MYBPC3 is the most commonly mutated gene linked to hypertrophic cardiomyopathy (HCM) and has multiple loss-of-function variants that show minimal impact on reproductive fitness across different regions.
  • One notable variant, NM_000256.3:c.3330+2T > G, was initially found in severe HCM cases among Amish newborns but is also seen in adult HCM patients and has now been reported in Swiss families.
  • The presence of this variant in various populations suggests a larger pool of asymptomatic carriers, indicating that those with severe early-onset symptoms might not represent the full scope of the variant's effect on health.
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Fenestrated aortic valve is a frequent condition which is, for most of the time, asymptomatic and generally has no influence on aortic valve competence. However, aortic valve regurgitation could occur, especially in the case of fibrous strand rupture. In this situation, acute aortic regurgitation is poorly tolerated and requires urgent surgical correction.

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Background: To quantify mitral regurgitation (MR) with CMR, the regurgitant volume can be calculated as the difference between the left ventricular (LV) stroke volume (SV) measured with the Simpson's method and the reference SV, i.e. the right ventricular SV (RVSV) in patients without tricuspid regurgitation.

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Multidisciplinary cardiogenetic consulting offers a global clinical approach to patients suffering from channelopathies or hereditary cardiomyopathies. Mutation is discovered in around 50 % of the cases. Several experts are working together to bring probands and their families useful and necessary informations to help them understanding causes, consequences and support of their disease.

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Mitral regurgitation (MR) is the most frequent valvular disease in industrialised countries. MR is classified as primary (mostly degenerative with valve prolapse) or secondary (mainly due to underlying ischemic heart disease resulting in deformation of the valve structure). Surgical repair represents the optimal treatment for severe primary MR, whereas the benefits of surgical correction of secondary MR are controversial.

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