Project description:Abnormal septal motion (commonly referred to as septal bounce) is a common echocardiographic finding that occurs with several conditions, including the following: mitral stenosis, left bundle branch block, pericardial syndromes and severe pulmonary hypertension. We explore the subtle changes that occur on M-mode imaging of the septum, other associated echocardiographic features, the impact of inspiratory effort on septal motion and relevant clinical findings. Finally, we discuss the impact of abnormal septal motion on cardiac form and function, proposing there is a clinically significant impact on biventricular filling and ejection.

| S-EPMC8409894 | biostudies-literature

Dynamic Slow-Motion Display in the Diagnosis of Functional Pulmonary Atresia in Fetal Ebstein Anomaly.

Project description: Not available

| S-EPMC7175753 | biostudies-literature

Ebstein anomaly variant with anterior leaflet displacement

Project description: Not available

| S-EPMC11632384 | biostudies-literature

Demonstration of circular shunt in fetal Ebstein anomaly.

Project description:Ebstein's anomaly was diagnosed in a fetus at 24 weeks of gestation. There was significant cardiomegaly and severe tricuspid regurgitation (TR). There was functional pulmonary atresia with severe pulmonary regurgitation (PR) and this was causing a circular shunt. There was no fetal hydrops.

| S-EPMC4608207 | biostudies-literature

Copy number variants in Ebstein anomaly.

Project description:Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component.We performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases.We genotyped 60 EA cases identified from all live births (2,891,076) from selected California counties (1991-2010) using the Illumina HumanOmni2.5-8 array. We identified 38 candidate CNVs in 28 (46%) cases and prioritized and validated 11 CNVs based on the genes included.Five CNVs (41%) overlapped or were close to genes involved in early myocardial development, including NODAL, PDLIM5, SIX1, ASF1A and FGF12. We also replicated a previous association of EA with CNVs at 1p34.1 and AKAP12. Finally, we identified four CNVs overlapping or in close proximity to the transcription factors HES3, TRIM71, CUX1 and EIF4EBP2.This study supports the relationship of genetic factors to EA and demonstrates that defects in cardiomyocytes and myocardium differentiation may play a role. Abnormal differentiation of cardiomyocytes and how genetic factors contribute should be examined for their association with EA.

| S-EPMC5720705 | biostudies-other

Cone repair after tricuspid valve replacement in Ebstein anomaly.

Project description: Not available

| S-EPMC10405157 | biostudies-literature

Risk Factors for Atrial Arrhythmias in Adults With Ebstein Anomaly

Project description: Not available

| S-EPMC11198643 | biostudies-literature

Bioprosthetic tricuspid valve dehiscence in a patient with Ebstein anomaly.

Project description: Not available

| S-EPMC2763458 | biostudies-literature

Identification of clinically relevant phenotypes in patients with Ebstein anomaly.

Project description:BackgroundEbstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes.HypothesisPhenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors.MethodsA comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis.ResultsThe most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities.ConclusionsThis study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting.

| S-EPMC6489938 | biostudies-literature

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