Publications by authors named "Agathe Vernier"
Article Synopsis
- SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
- The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
- About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
Background/aim: Left ventricular outflow tract obstruction related to systolic anterior motion (SAM) of the mitral valve is a common complication of dobutamine stress echocardiography (DSE). However, the mechanisms underlying SAM have not been fully characterized. The objective of the present study was to use three-dimensional echocardiography to identify anatomic features of the mitral valve that predispose to SAM during DSE.
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- The study investigates the prevalence and effects of pathogenic variants in a specific gene related to cardiomyopathy and sudden cardiac death among patients.
- Out of 9,516 tested individuals, 31 were found to carry pathogenic variants, mostly presenting with dilated cardiomyopathy, with some also experiencing severe cardiac issues.
- Although the overall prognosis for dilated cardiomyopathy in variant carriers seems favorable, severe conditions and early onset were noted, especially in those with double variants.
Tako-tsubo cardiomyopathy is characterized by a total reversibility of wall motion abnormalities of the left ventricle (LV) as well as normalization of LV ejection fraction after the acute phase. However, recent studies have shown that some patients present functional, metabolic, and morphologic abnormalities away from the acute phase suggesting an incomplete recovery of the disease. In this revue we discuss about this topic through several tools used in those studies (echocardiography, exercise test, MRI, nuclear imaging, biology, as well).
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