Three-dimensional anatomic features of the mitral valve that predict systolic anterior motion occurring during dobutamine stress echocardiography.

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. METHODS: We retrospectively evaluated consecutive patients included prospectively in our database and who had undergone 3D echocardiography (including an assessment of the mitral valve) before DSE. Patients who had developed SAM during DSE (the SAM+ group) were matched 2:3 with patients who did not (the SAM- group). RESULTS: One hundred patients were included (mean age: 67 ± 10). Compared with SAM- patients (n = 60), SAM+ patients (n = 40) had a lower mitral annular area, a smaller perimeter, and a smaller diameter (p < .01 for all, except the anteroposterior diameter). The SAM+ group had also a narrower mitral-aortic angle (126 ± 12° vs. 139 ± 11° in the SAM- group; p < .01) and a higher posterior mitral leaflet length (1.4 ± .27 cm vs. 1.25 ± .29, respectively; p < .01). Furthermore, the mitral annulus was more spherical, more flexible, and more dynamic in SAM+ patients than in SAM- patients (p < .05 for all). In a multivariate analysis of anatomic variables, the mitral-aortic angle, the mitral annular area, and posterior leaflet length were independent predictors of SAM (p ≤ .01 for all). In a multivariate analysis of standard echo and hemodynamic variables, the presence of wall motion abnormalities at rest (p < .01) was an independent predictor of SAM. CONCLUSION: SAM during DSE is multifactorial. In addition to the pharmacologic effects of dobutamine on the myocardium, 3D echocardiographic features of the mitral valve (a smaller mitral annulus, a narrower mitral-aortic angle, and a longer posterior leaflet) appear to predispose to SAM.

NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.

BACKGROUND: Few clinical data are available on NEXN mutation carriers, and the gene's involvement in cardiomyopathies or sudden death has not been fully established. Our objectives were to assess the prevalence of putative pathogenic variants in NEXN and to describe the phenotype and prognosis of patients carrying the variants. METHODS: DNA samples from consecutive patients with cardiomyopathy or sudden cardiac death/sudden infant death syndrome/idiopathic ventricular fibrillation were sequenced with a custom panel of genes. Index cases carrying at least one putative pathogenic variant in the NEXN gene were selected. RESULTS: Of the 9516 index patients sequenced, 31 were carriers of a putative pathogenic variant in NEXN only, including 2 with double variants and 29 with a single variant. Of the 29 unrelated probands with a single variant (16 males; median age at diagnosis, 32.0 [26.0-49.0] years), 21 presented with dilated cardiomyopathy (prevalence, 0.33%), and 3 presented with hypertrophic cardiomyopathy (prevalence, 0.14%). Three patients had idiopathic ventricular fibrillation, and there were 2 cases of sudden infant death syndrome (prevalence, 0.46%). For patients with dilated cardiomyopathy, the median left ventricle ejection fraction was 37.5% (26.25-50.0) at diagnosis and improved with treatment in 13 (61.9%). Over a median follow-up period of 6.0 years, we recorded 3 severe arrhythmic events and 2 severe hemodynamic events. CONCLUSIONS: Putative pathogenic NEXN variants were mainly associated with dilated cardiomyopathy; in these individuals, the prognosis appeared to be relatively good. However, severe and early onset phenotypes were also observed-especially in patients with double NEXN variants. We also detected NEXN variants in patients with hypertrophic cardiomyopathy and sudden infant death syndrome/idiopathic ventricular fibrillation, although a causal link could not be established.

[Is Tako-tsubo cardiomyopathy really reversible ?] / La Cardiomyopathie de Tako-tsubo est-elle réellement réversible ?

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).