6 research outputs found
CO 5 Impact of loading conditions on ventricular function in Ebstein anomaly (EA) of tricuspid valve
Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management
Atrioventricular block is classified as congeni-
tal if diagnosed in utero, at birth, or within the first
month of life. The pathophysiological process is believed
to be due to immune-mediated injury of the conduction
system, which occurs as a result of transplacental pas-
sage of maternal anti-SSA/Ro-SSB/La antibodies.
Childhood atrioventricular block is therefore diagnosed
between the first month and the 18th year of life.
Genetic variants in multiple genes have been described
to date in the pathogenesis of inherited progressive car-
diac conduction disorders. Indications and techniques of
cardiac pacing have also evolved to allow safe perma-
nent cardiac pacing in almost all patients, including
those with structural heart abnormalities
L'analyse échographique bidimensionnelle du strain, un nouvel outil en réanimation des cardiopathies congénitales?
BORDEAUX2-BU Santé (330632101) / SudocSudocFranceF
Tetralogy of Fallot with coarctation of the aorta: a newly recognised developmental and anatomic syndrome
Cone reconstruction for Ebstein's anomaly: Patient outcomes, biventricular function, and cardiopulmonary exercise capacity
NEXN gene in cardiomyopathies and sudden cardiac deaths: prevalence, phenotypic expression, and prognosis
International audienceBACKGROUND: 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