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Current Cardiology Reports Oct 2020Ebstein's anomaly (EA) is a rare, but complex form of congenital heart disease consisting of a right ventricular myopathy and morphologic tricuspid valve disease leading... (Review)
Review
PURPOSE OF REVIEW
Ebstein's anomaly (EA) is a rare, but complex form of congenital heart disease consisting of a right ventricular myopathy and morphologic tricuspid valve disease leading to a high incidence of right ventricular dysfunction and arrhythmias. This review offers an updated overview of the current understanding and management of patients with EA with a focus on the adult population.
RECENT FINDINGS
Increased understanding of anatomic accessory atrioventricular pathways in EA has resulted in an improvement in ablation techniques and long-term freedom of atrial arrhythmia recurrence. Despite an improvement in understanding and recognition of EA, significant disease heterogeneity and complex treatment options continue to challenge providers, with the best outcomes achieved at expert congenital heart disease centers.
Topics: Adult; Arrhythmias, Cardiac; Ebstein Anomaly; Heart Defects, Congenital; Humans; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 33037480
DOI: 10.1007/s11886-020-01412-z -
Heart Failure Reviews Jul 2020Ebstein anomaly comprises approximately 1% of all congenital heart diseases. It occurs when the tricuspid valve fails to properly delaminate from the right ventricle,... (Review)
Review
Ebstein anomaly comprises approximately 1% of all congenital heart diseases. It occurs when the tricuspid valve fails to properly delaminate from the right ventricle, resulting in a clinical spectrum of abnormal tricuspid valve morphology and right ventricular dysfunction. Due to the anatomy of the tricuspid valve and right ventricle, as well as associated right- and left-sided pathology, patients are at risk for both right and left ventricular failure and the associated symptoms of each. Ebstein patients are also at risk for atrial arrhythmias, due to the atrial enlargement intrinsic to the anatomy, as well as the presence of potential accessory pathways. Arrhythmias are generally poorly tolerated, particularly in the setting of ventricular dysfunction. Cyanosis may also be present in Ebstein patients, due to the common occurrence of atrial communications, which can exacerbate other symptoms of heart failure. Treatment of heart failure can be through pharmacologic and procedural interventions, depending on the underlying cause of heart failure. While early heart failure symptoms may be treated with medical management, most Ebstein patients will require surgery. Various surgical and catheter-based interventions targeting the tricuspid valve and the atrialized right ventricular tissue have been developed to help treat the underlying cause of the heart failure. The optimal timing of transcatheter and surgical intervention in the Ebstein patient to prevent or treat heart failure needs further study.
Topics: Adult; Cardiac Surgical Procedures; Disease Management; Ebstein Anomaly; Heart Failure; Humans
PubMed: 32472521
DOI: 10.1007/s10741-020-09930-2 -
Circulation. Arrhythmia and... Jul 2022Optimal management of cardiac implantable electronic devices (CIEDs) in patients with Ebstein anomaly during tricuspid valve (TV) surgery is unknown. Thus, we aimed to...
BACKGROUND
Optimal management of cardiac implantable electronic devices (CIEDs) in patients with Ebstein anomaly during tricuspid valve (TV) surgery is unknown. Thus, we aimed to characterize CIED management/outcomes in patients with Ebstein anomaly undergoing TV surgery.
METHODS
Patients at the Mayo Clinic from 1987 to 2020 with Ebstein anomaly and CIED procedure were reviewed for procedural details, complications, echocardiogram, and lead parameters. Five-year cumulative incidence of CIED complications were estimated using the Kaplan-Meier method.
RESULTS
Ninety-three patients were included; 51 were female, and mean age was 40.7±17.5 years. A new CIED was implanted in 45 patients at the time of TV surgery with the majority receiving an epicardial (n=37) CIED. Among 34 patients who had preexisting CIED (11 epicardial, 23 transvenous) at time of TV surgery, 20 had a transvenous right ventricular lead managed by externalizing the lead to the TV (n=15) or extracting the transvenous lead with epicardial lead implantation (n=5). Fourteen patients underwent CIED implantation (4 epicardial, 10 transvenous) without concurrent surgery. Placement of lead across the TV was avoided in 85% of patients. The 5-year cumulative incidence of CIED complications was 24% with no significant difference between epicardial and transvenous CIEDs (26% versus 23%, =0.96). Performance of lead parameters was similar in epicardial and transvenous leads during median (interquartile range) follow-up of 44.5 (61.1) months.
CONCLUSIONS
In patients with Ebstein anomaly undergoing TV surgery, the use of epicardial leads and externalization of transvenous leads to the TV can avoid lead placement across the valve leaflets. Lead performance and CIED complications was similar between epicardial and transvenous CIEDs.
Topics: Adult; Defibrillators, Implantable; Ebstein Anomaly; Electronics; Female; Heart; Humans; Male; Middle Aged; Pacemaker, Artificial; Retrospective Studies; Treatment Outcome; Young Adult
PubMed: 35763435
DOI: 10.1161/CIRCEP.121.010744 -
Heart (British Cardiac Society) Feb 2023
Topics: Humans; Ebstein Anomaly; Atrial Fibrillation; Heart Septal Defects, Atrial
PubMed: 36379695
DOI: 10.1136/heartjnl-2022-321876 -
Cardiovascular Diagnosis and Therapy Dec 2021Ebstein's anomaly is a rare congenital heart disease with malformation of the tricuspid valve and myopathy of the right ventricle. The septal and inferior leaflets... (Review)
Review
Ebstein's anomaly is a rare congenital heart disease with malformation of the tricuspid valve and myopathy of the right ventricle. The septal and inferior leaflets adhere to the endocardium due to failure of delamination. This leads to apical displacement of their hinge points with a shift of the functional tricuspid valve annulus towards the right ventricular outflow tract with a possibly restrictive orifice. Frequently, a coaptation gap yields tricuspid valve regurgitation and over time the "atrialized" portion of the right ventricle may dilate. The highly variable anatomy determines the clinical presentation ranging from asymptomatic to very severe with need for early operation. Echocardiography and magnetic resonance imaging are the most important diagnostic modalities to assess the tricuspid valve as well as ventricular morphology and function. While medical management of asymptomatic patients can be effective for many years, surgical intervention is indicated before development of significant right ventricular dilatation or dysfunction. Onset of symptoms and arrhythmias are further indications for surgery. Modified cone reconstruction of the tricuspid valve is the state-of-the-art approach yielding the best results for most patients. Alternative procedures for select cases include tricuspid valve replacement and bidirectional cavopulmonary shunt depending on patient age and other individual characteristics. Long-term survival after surgery is favorable but rehospitalization and reoperation remain significant issues. Further studies are warranted to identify the optimal surgical strategy and timing before adverse right ventricular remodeling occurs. It is this article's objective to provide a comprehensive review of current literature and an overview on the management of Ebstein's Anomaly. It focuses on imaging, cardiac surgery, and outcome. Additionally, a brief insight into arrhythmias and their management is given. The "future perspectives" summarize open questions and fields of future research.
PubMed: 35070800
DOI: 10.21037/cdt-20-771 -
Seminars in Thoracic and Cardiovascular... 2022
Topics: Ebstein Anomaly; Humans; Treatment Outcome
PubMed: 34000429
DOI: 10.1053/j.semtcvs.2021.04.028 -
Internal Medicine (Tokyo, Japan) Dec 2022Ebstein's anomaly is an uncommon congenital disorder affecting the tricuspid valve. We herein report a 38-year-old woman who experienced consciousness and sensory...
Ebstein's anomaly is an uncommon congenital disorder affecting the tricuspid valve. We herein report a 38-year-old woman who experienced consciousness and sensory disturbance during treatment for heart failure caused by Ebstein's anomaly. Urgent magnetic resonance imaging and cerebral angiography demonstrated acute cerebral infarction and internal carotid artery obstruction with the development of collateral arteries. We diagnosed her with multiple cerebral infarctions due to moyamoya disease. Ebstein's anomaly concomitant with moyamoya disease is extremely rare. However, we should consider the possibility of this rare but important concurrence when treating patients with heart failure due to Ebstein's anomaly to avoid excessive diuresis and vasodilation and irreversible brain injury.
Topics: Female; Humans; Adult; Ebstein Anomaly; Moyamoya Disease; Tricuspid Valve; Heart Failure
PubMed: 35569986
DOI: 10.2169/internalmedicine.9516-22 -
Advances in Experimental Medicine and... 2024Cardiac development is a fine-tuned process governed by complex transcriptional networks, in which transcription factors (TFs) interact with other regulatory layers. In... (Review)
Review
Cardiac development is a fine-tuned process governed by complex transcriptional networks, in which transcription factors (TFs) interact with other regulatory layers. In this chapter, we introduce the core cardiac TFs including Gata, Hand, Nkx2, Mef2, Srf, and Tbx. These factors regulate each other's expression and can also act in a combinatorial manner on their downstream targets. Their disruption leads to various cardiac phenotypes in mice, and mutations in humans have been associated with congenital heart defects. In the second part of the chapter, we discuss different levels of regulation including cis-regulatory elements, chromatin structure, and microRNAs, which can interact with transcription factors, modulate their function, or are downstream targets. Finally, examples of disturbances of the cardiac regulatory network leading to congenital heart diseases in human are provided.
Topics: Animals; Humans; Gene Regulatory Networks; Transcription Factors; Heart Defects, Congenital; Gene Expression Regulation, Developmental; Mice; MicroRNAs; Heart; Myocardium
PubMed: 38884718
DOI: 10.1007/978-3-031-44087-8_16 -
Commentary: Ebstein anomaly with circular shunt-round and round we go but not necessarily very fast.The Journal of Thoracic and... Nov 2023
PubMed: 37967763
DOI: 10.1016/j.jtcvs.2023.11.016 -
Journal of Cardiovascular Development... Apr 2022Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the... (Review)
Review
Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15-29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes and , the genetic etiology and pathogenesis of EA/LVNC remain largely unknown.
PubMed: 35448091
DOI: 10.3390/jcdd9040115