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Journal of the American College of... Jun 2023Low birth prevalence and referral bias constitute significant obstacles to elucidating the natural history of Ebstein anomaly (EA).
BACKGROUND
Low birth prevalence and referral bias constitute significant obstacles to elucidating the natural history of Ebstein anomaly (EA).
OBJECTIVES
An extensive 2-country register-based collaboration was performed to investigate the mortality in patients with EA.
METHODS
Patients born from 1970 to 2017 and diagnosed with EA were identified in Danish and Swedish nationwide medical registries. Each patient was matched by birth year and sex with 10 control subjects from the general population. Cumulative mortality and HR of mortality were computed using Kaplan-Meier failure function and Cox proportional regression model.
RESULTS
The study included 530 patients with EA and 5,300 matched control subjects with a median follow-up of 11 years. In the EA cohort, 43% (228) underwent cardiac surgery. Cumulative mortality was lower for patients diagnosed in the modern era (the year 2000 and later) than for those diagnosed in the prior era (P < 0.001). Patients with isolated lesion displayed lower cumulative mortality than patients with complex lesions did (P < 0.001). Patients with a presumed mild EA anatomy displayed a 35-year cumulative mortality of 11% (vs 4% for the matched control subjects; P < 0.001), yielding an HR for mortality of 6.0 (95% CI: 2.7-13.6), whereas patients with presumed severe EA demonstrated an HR of 36.2 (95% CI: 15.5-84.4) compared with control subjects and a cumulative mortality of 18% 35 years following diagnosis.
CONCLUSIONS
Mortality in patients with EA is high irrespective of presence of concomitant congenital cardiac malformations and time of diagnosis compared with the general population, but overall mortality has improved in the contemporary era.
Topics: Humans; Ebstein Anomaly; Retrospective Studies; Cardiac Surgical Procedures; Proportional Hazards Models; Hospital Mortality
PubMed: 37344044
DOI: 10.1016/j.jacc.2023.04.037 -
Heart (British Cardiac Society) Jan 2024Although survival has significantly improved in the last four decades, the diagnosis of Ebstein's anomaly is still associated with a 20-fold increased risk of mortality,... (Review)
Review
Although survival has significantly improved in the last four decades, the diagnosis of Ebstein's anomaly is still associated with a 20-fold increased risk of mortality, which generally drops after neonatal period and increases subtly thereafter. With increasing age of presentation, appropriate timing of intervention is challenged by a wide spectrum of disease and paucity of data on patient-tailored interventional strategies. The present review sought to shed light on the wide grey zone of post-neonatal Ebstein's manifestations, highlighting current gaps and achievements in knowledge for adequate risk assessment and appropriate therapeutic strategy.A 'wait-and-see' approach has been adopted in many circumstances, though its efficacy is now questioned by the awareness that Ebstein's anomaly is not a benign disease, even when asymptomatic. Moreover, older age at intervention showed a negative impact on post-surgical outcome.In order to tackle the extreme heterogeneity of Ebstein's anomaly, this review displays the multimodality imaging assessment necessary for a proper anatomical classification and the multidisciplinary approach needed for a comprehensive risk stratification and monitoring strategy. Currently available predictors of clinical outcome are summarised for both operated and unoperated patients, with the aim of supporting the decisional process on the choice of appropriate therapy and optimal timing for intervention.
Topics: Infant, Newborn; Child; Adult; Humans; Ebstein Anomaly; Risk Assessment; Multimodal Imaging
PubMed: 37487694
DOI: 10.1136/heartjnl-2023-322420 -
HGG Advances Oct 2023Ebstein's anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as...
Ebstein's anomaly is a rare congenital heart disease characterized by tricuspid valve downward displacement and is associated with additional cardiac phenotypes such as left ventricle non-compaction. The genetic basis of Ebstein's anomaly has yet to be fully elucidated, although several genes (e.g., , , , and ) may contribute to Ebstein's anomaly. Here, in two Ebstein's anomaly families (a three-generation family and a trio), we identified independent heterozygous nonsense variants in laminin subunit 3 (), cosegregated with phenotypes in families with reduced penetrance. Furthermore, knocking out in mice revealed that haploinsufficiency of led to Ebstein's malformation of the tricuspid valve and an abnormal basement membrane structure. In conclusion, we identified a novel gene-disease association of implicated in Ebstein's anomaly, and the findings extended our understanding of the role of the extracellular matrix in Ebstein's anomaly etiology.
Topics: Animals; Mice; Ebstein Anomaly; Extracellular Matrix; Extracellular Matrix Proteins; Laminin; Tricuspid Valve
PubMed: 37635785
DOI: 10.1016/j.xhgg.2023.100227 -
Chinese Medical Journal May 2024Ebstein's anomaly (EA) is a rare and complex congenital heart anomaly, and the effect of surgical treatment is not ideal. This study aims to introduce our experience in...
BACKGROUND
Ebstein's anomaly (EA) is a rare and complex congenital heart anomaly, and the effect of surgical treatment is not ideal. This study aims to introduce our experience in management strategies, surgical techniques, and operative indications for patients with Ebstein's anomaly.
METHODS
A retrospective study of 258 operations was performed in 253 patients by the same cardiac surgeon in The First Hospital of Tsinghua University between March 2004 and January 2020. 32 patients had previously received cardiac surgery in other hospitals. The clinical data including diagnosis, operative indications, techniques, pathological changes, and survival rates were collected and analyzed.
RESULTS
Anatomical correction was performed in 203 (78.7%) operations, 1½ ventricle repair in 38 (14.7%) operations, tricuspid valve repair only in four operations (1.6%), tricuspid valve replacement in ten (3.9%), total cavopulmonary connection (TCPC) in two (0.8%), and Glenn operation in one operation (0.4%). Reoperation was performed in five patients (2.0%) during hospitalization. Among them, tricuspid valve replacement was performed in one patient, 1½ ventricle repair in two patients, and tricuspid valve annulus reinforcement in two patients. Five patients died with an early mortality rate of 2.0%. Complete atrioventricular conduction block was complicated in one patient (0.4%). A total of 244 patients was followed up (four in the 253 patients lost) with a duration of 3.0-168.0 (87.6 ± 38.4) months. Cardiac function of 244 patients improved significantly with mean New York Heart Association (NYHA) functional class recovery from 3.5 to 1.1. The mean grade of tricuspid valve regurgitation improved from 3.6 to 1.5. Three late deaths (1.2%) occurred. The survival rates at five and ten years after surgery were 98.6% and 98.2%, respectively. Reoperation was performed in five patients (2.0%) during the follow-up period.
CONCLUSION
Based on our management strategies and operative principles and techniques, anatomical correction of EA is capable of achieving excellent long-term results, and low rates of TCPC, 1½ ventricle repair and valvular replacement.
Topics: Humans; Ebstein Anomaly; Retrospective Studies; Male; Female; Adult; Adolescent; Child; Young Adult; Child, Preschool; Tricuspid Valve; Infant; Middle Aged; Cardiac Surgical Procedures
PubMed: 38030389
DOI: 10.1097/CM9.0000000000002854 -
JTCVS Open Dec 2023To describe the surgical outcomes in neonates and infants who had surgery for Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD).
OBJECTIVE
To describe the surgical outcomes in neonates and infants who had surgery for Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD).
METHODS
Retrospective chart review for all patients who underwent surgery for EA or TVD during the index hospitalization after birth at our institution from January 2005 to February 2023.
RESULTS
Fifteen symptomatic neonates and infants who had surgery for EA or TVD were included, 8 with EA and 7 with TVD. Eleven patients (73%) and 3 patients (20%) required preoperative inotropes and extracorporeal membrane oxygenation, respectively. Nine patients (60%) had a Starnes procedure and 6 patients (40%) had tricuspid valve repair (TVr). Mortality at last follow-up was 27% overall (n = 4/15), 22% after Starnes (n = 2/9) and 33% after TVr (n = 2/6), without a significant difference despite a greater-risk profile in the Starnes group. Postoperative day 1 lactate level was associated with mortality on Cox regression (hazard ratio, 1.45; = .01). Three of 9 patients who had a Starnes procedure were or will be converted to a cone repair (1.5/2-ventricle repair).
CONCLUSIONS
Mortality after surgery for EA or TVD during the index hospitalization after birth is still significant in the current era and is associated with a greater lactate level at postoperative day 1. The Starnes procedure and TVr had comparable outcomes despite a greater-risk profile in the Starnes group. An initial single-ventricle approach does not preclude conversion to biventricular or 1.5-ventricle repair.
PubMed: 38204669
DOI: 10.1016/j.xjon.2023.08.007