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Advances in Experimental Medicine and... 2024Ebstein's anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve... (Review)
Review
Ebstein's anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, mouse models that show features of Ebstein's anomaly and the naturally occurring model of canine tricuspid valve malformation are described and compared to the human model. Although Ebstein's anomaly remains one of the least understood cardiac malformations to date, the studies summarized here provide, in aggregate, evidence for monogenic and oligogenic factors driving pathogenesis.
Topics: Ebstein Anomaly; Animals; Disease Models, Animal; Humans; Dogs; Mice; Tricuspid Valve
PubMed: 38884760
DOI: 10.1007/978-3-031-44087-8_58 -
Advances in Experimental Medicine and... 2024Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is characterized by... (Review)
Review
Ebstein anomaly (EA) is a rare, congenital cardiac defect of the tricuspid valve with a birth prevalence between 0.5 and 1 in 20,000 [1]. It is characterized by displacement of the tricuspid valve toward the apex of the right ventricle (RV) and "atrialization" of the RV (Fig. 57.1) [2]. EA accounts for about 0.5% of all congenital heart diseases (CHD) [2]. Depending on severity of the defect and due to heterogeneity of the disease, patient's presentation varies from severe heart failure symptoms and arrhythmia in neonatal life to asymptomatic adults.
Topics: Ebstein Anomaly; Humans; Tricuspid Valve; Genetic Predisposition to Disease; Mutation
PubMed: 38884759
DOI: 10.1007/978-3-031-44087-8_57 -
Advances in Experimental Medicine and... 2024Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It... (Review)
Review
Ebstein anomaly is a rare congenital heart defect, accounting for less than 1% of cardiac malformations and occurring in approximately 1 out of 210,000 live births. It is characterized by an abnormality of the tricuspid valve, where the valve is positioned lower than normal in the right ventricle. Although primarily a tricuspid valve defect, the right ventricle itself is often structurally abnormal and weakened (myopathic).
Topics: Ebstein Anomaly; Humans; Tricuspid Valve; Heart Ventricles
PubMed: 38884758
DOI: 10.1007/978-3-031-44087-8_56 -
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 -
ASAIO Journal (American Society For... Jun 2024Patients supported on ventricular assist devices (VADs) benefit from rehabilitation while awaiting heart transplantation to recover from surgery, prevent deconditioning,...
Patients supported on ventricular assist devices (VADs) benefit from rehabilitation while awaiting heart transplantation to recover from surgery, prevent deconditioning, and, in most cases, optimize transplant candidacy. With bleeding and neurological dysfunction as the most common VAD complications, the importance of rehabilitation dramatically increases when a patient on a VAD also suffers from a neurological injury. The rehabilitation needs for cardiac conditioning and neurological reeducation are not the same. Patients with severe neurological deficits require intense rehabilitation that often includes base-of-support challenges, usage of bolsters and balls, partial weight-bearing treadmill training, and assumption of various body positions in prone, kneeling, or quadruped for neuromotor reeducation. However, some devices are more conducive to rehabilitation than others. For children supported by the CentriMag in particular, rehabilitation is challenged by short cannula tubing, an external motor, a large interface, and an intensive care unit (ICU) admission. We report a safe and successful physical therapy course of a pediatric stroke patient with a diagnosis of Ebstein's anomaly supported by a CentriMag right VAD (RVAD) while awaiting heart transplant in the ICU.
PubMed: 38870474
DOI: 10.1097/MAT.0000000000002254 -
PCN Reports : Psychiatry and Clinical... Dec 2023Along with the improved prognosis of patients with congenital heart disease, the associated diverse complications are under scrutiny. Due to various medical restrictions...
BACKGROUND
Along with the improved prognosis of patients with congenital heart disease, the associated diverse complications are under scrutiny. Due to various medical restrictions on their upbringing, patients with congenital heart disease often have coexisting mental disorders. However, reports on patients with congenital heart disease and coexisting eating disorders are rare. Here, we report the case of a patient who developed anorexia nervosa (AN) following surgery for Ebstein's anomaly.
CASE PRESENTATION
A 21-year-old female with Ebstein's anomaly who underwent Fontan surgery was transferred to our institution with suspected AN after >2 years of intermittent stays at a medical hospital for decreased appetite. Initially, she did not desire to lose weight or fear obesity, and we suspected that she was suffering from appetite loss due to a physical condition associated with Fontan circulation. However, the eating disorder pathology gradually became more apparent.
CONCLUSION
Our experience suggests that patients with congenital heart disease are more likely to have a psychological background and physical problems that might contribute to eating disorders than the general population.
PubMed: 38868727
DOI: 10.1002/pcn5.154 -
Hellenic Journal of Cardiology : HJC =... Jun 2024We aimed to examine biventricular remodeling and function after Ebstein anomaly (EbA) surgical correction using echocardiographic techniques, particularly, the relations...
OBJECTIVE
We aimed to examine biventricular remodeling and function after Ebstein anomaly (EbA) surgical correction using echocardiographic techniques, particularly, the relations between the biventricular changes and the EbA types.
METHODS
From April 2015 to August 2022, 110 patients with EbA were included in this retrospective study based on the Carpentier classification. Echocardiography assessments during the preoperative, early, and mid-term postoperative periods were performed.
RESULTS
The 54 patients with types A and B EbA were included in group 1, whereas the 56 patients with types C and D were in group 2. Seventy-eight patients underwent surgical correction of EbA. The median age at operation was 8.8 years. During the mid-term follow-up, only 9.1% of the patients had moderate or severe tricuspid regurgitation. Right ventricular (RV) systolic function worsened in group 2 at discharge (fractional area change: 27.6 ± 11.2 vs. 35.4 ± 11.5 [baseline], P < 0.05; global longitudinal strain: -10.8 ± 4.4 vs. -17.9 ± 4.7 [baseline], P = 0.0001). RV function slowly recovered at a mean of 12 months of follow-up. Regarding left ventricular (LV) and RV systolic function, no statistical difference was found between before and after surgery in group 1.
CONCLUSION
A high success rate of surgical correction of EbA, with an encouraging durability of the valve, was noted. Biventricular systolic function was maintained fairly in most patients with types A and B postoperatively. A late increase in RV systolic function after an initial reduction and unchanged LV systolic function were observed in the patients with types C and D postoperatively.
PubMed: 38844023
DOI: 10.1016/j.hjc.2024.05.019 -
Pediatric Cardiology Jun 2024This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed...
This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed with EA at fetal medicine centers in Brazil, Italy, and Poland were retrieved. The primary outcome was perinatal mortality. We analyzed prenatal cardiac ultrasound markers of outcomes and perinatal follow-up. Gestational age at diagnosis, extracardiac fetal anomalies, spontaneous fetal demise, and gestational age at each event were recorded. In postnatal survivors, data on cardiac surgery and short-term postoperative outcomes were collected. Our study included a cohort of 35 fetuses with EA (mean gestational age of 29.4 weeks), in which 6 fetuses were excluded due to termination of pregnancy (3), pregnancy still ongoing (2), and missed follow-up (1). Of the remaining 29 cases, severe tricuspid regurgitation and absence of anterograde pulmonary flow (pulmonary atresia) were observed in 88%. Significant cardiomegaly accounts for 58% of these data with a mean cardiothoracic ratio of 0.59. The cardiovascular profile (CVS) score ≤ 6 in six patients with one survival (4 fetal deaths, one stillbirth, and one survival). All fetuses with CVS score of 5 had intrauterine demise. Seventeen fetuses were born alive (53.1% of 29 cases). Of the remaining fetuses, one (1%) fetal was a stillbirth, six (20%) fetuses were neonatal deaths, and five (17%) fetuses were fetal deaths. Of the nineteen patients who underwent surgery to correct the cardiac defect, 17 survived after surgery. Among the survivors, biventricular cardiac repair was performed using the cone technique (da Silva's approach) in the majority of cases. We observed 2 abnormal karyotypes among in the remaining 29 fetuses. One of the patients with abnormal karyotype was a fetus with ascites and large for gestational age. The other patient with abnormal karyotype underwent cardiac surgery and progressed to neonatal death. Nine patients (25%) had extracardiac anomalies (genitourinary anomalies and single umbilical artery), being that 2 of them are alive and 4 died (2 had fetal and 2 neonatal death). Fetal EA is associated with high mortality. The most common prenatal marker associated with non-survival was CVP score ≤ 6. Fetuses that survived and underwent postnatal corrective surgery are significantly favorable outcomes.
PubMed: 38825661
DOI: 10.1007/s00246-024-03530-9 -
Clinical Case Reports Jun 2024This case report presents an uncommon variant of Ebstein anomaly, where all three tricuspid valve leaflets exhibited apical displacement-a rare finding. It illustrates...
KEY CLINICAL MESSAGE
This case report presents an uncommon variant of Ebstein anomaly, where all three tricuspid valve leaflets exhibited apical displacement-a rare finding. It illustrates the complexities in diagnosing and managing such atypical presentations, with successful surgical correction through annuloplasty. The report adds valuable insights to the limited literature on this congenital heart disease.
ABSTRACT
Ebstein anomaly (EA), a rare congenital heart disorder, presents with diverse clinical spectrums. This case report explores a distinctive manifestation of EA, where all three tricuspid valve (TV) leaflets exhibited apical displacement, highlighting a novel aspect in the presentation of this condition. A 44-year-old woman, under long-term medical surveillance for EA, showcased an atypical clinical trajectory marked by the apical displacement of all TV leaflets, which is uncommon in EA. Despite a predominantly asymptomatic course, recent exacerbation of symptoms prompted further evaluation. Diagnostic modalities, including echocardiography and cardiac magnetic resonance imaging, revealed severe tricuspid regurgitation concomitant with unprecedented apical displacement of the anterior, septal, and posterior tricuspid leaflets. The displacement of the anterior leaflet was contrary to typical embryonic valvular formation expectations, indicating a unique presentation within EA. The patient underwent annuloplasty surgery, which successfully rectified the anomalous TV architecture. Postoperative evaluation demonstrated mild residual tricuspid regurgitation, and the patient was discharged in stable condition. This case underscores the variability in EA presentations and accentuates the significance of tailored surgical interventions. The observation of apical displacement involving all TV leaflets adds a unique dimension to the existing EA literature, reinforcing the need for careful diagnosis and personalized treatment approaches.
PubMed: 38799521
DOI: 10.1002/ccr3.8991 -
Journal of Cardiovascular Development... May 2024Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as...
Collaborative multicenter research has significantly increased our understanding of fetal Ebstein anomaly, delineating risk factors for adverse outcomes as well as predictors of postnatal management. These data are incorporated into prenatal care and therapeutic strategies and inform family counseling and delivery planning to optimize care. This report details the translation of findings from multicenter studies into multidisciplinary prenatal care for a fetus with Ebstein anomaly, supraventricular tachycardia, and a circular shunt, including transplacental therapy to control arrhythmias and achieve ductal constriction, informed and coordinated delivery room management, and planned univentricular surgical palliation.
PubMed: 38786969
DOI: 10.3390/jcdd11050147