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European Journal of Cardio-thoracic... Aug 2022Congenital tricuspid valve dysplasia (TVD) is a rare cardiac disease, often discussed in the same way as Ebstein's anomaly. Though the morphology of TVD is different,...
OBJECTIVES
Congenital tricuspid valve dysplasia (TVD) is a rare cardiac disease, often discussed in the same way as Ebstein's anomaly. Though the morphology of TVD is different, the clinical appearance is similar. The indication for surgical treatment depends on the morphology of the tricuspid valve (TV) and the clinical presentation.
METHODS
We reviewed all patients below 18 years of age who underwent TV repair between 2005 and 2019 and identified 9 with a TVD. The diagnosis was verified with the operative notes and patients were excluded if the septal leaflet was displaced as in Ebstein's anomaly. The aim of the study was to describe the morphology of the TV and analyse the surgical possibilities and their results.
RESULTS
The median age at surgery was 2.3 years (5 days to 14 years), 3 patients were neonates with a duct-dependent pulmonary circulation. Morphology of the TV showed a tethering of at least 1 leaflet in all patients, a restrictive septal leaflet in 8, a large anterior leaflet in 7 and a small posterior leaflet in 4. Surgical techniques included an annuloplasty in 7 patients, a leaflet procedure in 6 patients, an edge-to-edge stitch in 5 patients and a primary Starnes procedure in 1 neonate. During a median follow-up time of 2.8 years (5 months to 15 years), 1 valve replacement and 1 conversion to univentricular palliation were necessary.
CONCLUSIONS
Unequal leaflet size and tethering are the most common features of TVD. A variety of surgical techniques is available to achieve good results beyond the neonatal period.
Topics: Cardiac Surgical Procedures; Child; Ebstein Anomaly; Heart Defects, Congenital; Humans; Infant, Newborn; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 35362523
DOI: 10.1093/ejcts/ezac212 -
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 -
European Heart Journal Jun 2022Sudden cardiac death (SCD) accounts for up to 25% of deaths in patients with congenital heart disease (CHD). To date, research has largely been driven by observational...
Sudden cardiac death (SCD) accounts for up to 25% of deaths in patients with congenital heart disease (CHD). To date, research has largely been driven by observational studies and real-world experience. Drawbacks include varying definitions, incomplete taxonomy that considers SCD as a unitary diagnosis as opposed to a terminal event with diverse causes, inconsistent outcome ascertainment, and limited data granularity. Notwithstanding these constraints, identified higher-risk substrates include tetralogy of Fallot, transposition of the great arteries, cyanotic heart disease, Ebstein anomaly, and Fontan circulation. Without autopsies, it is often impossible to distinguish SCD from non-cardiac sudden deaths. Asystole and pulseless electrical activity account for a high proportion of SCDs, particularly in patients with heart failure. High-quality cardiopulmonary resuscitation is essential to improve outcomes. Pulmonary hypertension and CHD complexity are associated with lower likelihood of successful resuscitation. Risk stratification for primary prevention implantable cardioverter-defibrillators (ICDs) should consider the probability of SCD due to a shockable rhythm, competing causes of mortality, complications of ICD therapy, and associated costs. Risk scores to better estimate probabilities of SCD and CHD-specific guidelines and consensus-based recommendations have been proposed. The subcutaneous ICD has emerged as an attractive alternative to transvenous systems in those with vascular access limitations, prior device infections, intra-cardiac shunts, or a Fontan circulation. Further improving SCD-related outcomes will require a multidimensional approach to research that addresses disease processes and triggers, taxonomy to better reflect underlying pathophysiology, high-risk features, early warning signs, access to high-quality cardiopulmonary resuscitation and specialized care, and preventive therapies tailored to underlying mechanisms.
Topics: Death, Sudden, Cardiac; Defibrillators, Implantable; Fontan Procedure; Heart Arrest; Heart Defects, Congenital; Humans; Risk Factors; Transposition of Great Vessels
PubMed: 35302168
DOI: 10.1093/eurheartj/ehac104 -
Fetal and Pediatric Pathology Jun 2022Tricuspid valve abnormalities detected in fetal life include Ebstein anomaly and tricuspid valve dysplasia. The differentiation between these 2 entities can sometimes...
Tricuspid valve abnormalities detected in fetal life include Ebstein anomaly and tricuspid valve dysplasia. The differentiation between these 2 entities can sometimes be challenging in the 2nd trimester fetus. We report a case of tricuspid valve dysplasia diagnosed on fetal autopsy. A primigravida was diagnosed at 22 weeks' gestation to have Ebstein anomaly with severe tricuspid regurgitation. There was intra-uterine fetal demise. On fetal autopsy, the tricuspid valve leaflets were not apically displaced and the leaflets were nodular with rolled up edges. This supported a diagnosis of tricuspid valve dysplasia. The difficulties in differentiating Ebstein anomaly from tricuspid valve dysplasia due to inherent limitations in fetal imaging can be resolved by fetal autopsy. Valvular dysplasia will not have apical displacement of the valve leaflets.
Topics: Autopsy; Ebstein Anomaly; Female; Fetus; Heart Defects, Congenital; Humans; Pregnancy; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 33063582
DOI: 10.1080/15513815.2020.1831665 -
JTCVS Techniques Sep 2020
PubMed: 34317897
DOI: 10.1016/j.xjtc.2020.05.002 -
Cells Apr 2021Little is known about abundance level changes of circulating microRNAs (miRNAs) and messenger RNAs (mRNA) in patients with Ebstein's anomaly (EA). Here, we performed an...
Little is known about abundance level changes of circulating microRNAs (miRNAs) and messenger RNAs (mRNA) in patients with Ebstein's anomaly (EA). Here, we performed an integrated analysis to identify the differentially abundant miRNAs and mRNA targets and to identify the potential therapeutic targets that might be involved in the mechanisms underlying EA. A large panel of human miRNA and mRNA microarrays were conducted to determine the genome-wide expression profiles in the blood of 16 EA patients and 16 age and gender-matched healthy control volunteers (HVs). Differential abundance level of single miRNA and mRNA was validated by Real-Time quantitative PCR (RT-qPCR). Enrichment analyses of altered miRNA and mRNA abundance levels were identified using bioinformatics tools. Altered miRNA and mRNA abundance levels were observed between EA patients and HVs. Among the deregulated miRNAs and mRNAs, 76 miRNAs (49 lower abundance and 27 higher abundance, fold-change of ≥2) and 29 mRNAs (25 higher abundance and 4 lower abundance, fold-change of ≥1.5) were identified in EA patients compared to HVs. Bioinformatics analysis identified 37 pairs of putative miRNA-mRNA interactions. The majority of the correlations were detected between the lower abundance level of miRNA and higher abundance level of mRNA, except for let-7b-5p, which showed a higher abundance level and their target gene, showed a lower abundance level. Pathway enrichment analysis of the deregulated mRNAs identified 35 significant pathways that are mostly involved in signal transduction and cellular interaction pathways. Our findings provide new insights into a potential molecular biomarker(s) for the EA that may guide the development of novel targeting therapies.
Topics: Adolescent; Adult; Ebstein Anomaly; Female; Gene Regulatory Networks; Humans; Male; MicroRNAs; RNA, Messenger; Transcriptome
PubMed: 33946378
DOI: 10.3390/cells10051066 -
Cardiology in the Young Nov 2022To evaluate the impact of fetal haemodynamics on surgical and neurodevelopmental outcomes in severe Ebstein anomaly and tricuspid valve dysplasia.
OBJECTIVES
To evaluate the impact of fetal haemodynamics on surgical and neurodevelopmental outcomes in severe Ebstein anomaly and tricuspid valve dysplasia.
METHODS
Thirty-four fetuses with Ebstein anomaly/tricuspid valve dysplasia were referred from 2013 to 2019 for fetal echocardiography and clinical management. Nineteen fetuses with Ebstein anomaly/tricuspid valve dysplasia and 30 controls underwent cardiovascular magnetic resonance to quantify the fetal blood flow and to calculate cerebral oxygen delivery (cDO2) and consumption (cVO2). The 3D steady-state free precession acquisition was used to measure fetal brain volume. Surgical outcome, brain MRI, and neurodevelopmental follow-up were reviewed.
RESULTS
Twenty-six fetuses were live born (76%) and survival (65%) at a mean follow-up of 4 years. Nine fetuses had a brain MRI before discharge, and all had clinically silent injuries and volume loss. At 18 months, five single-ventricle patients had a neurodevelopmental delay in cognition and language (mean percentile: 11th), with gross-motor skills more affected than fine-motor skills (mean percentiles: 4th and 34th). Fetuses with Ebstein anomaly/tricuspid valve dysplasia had smaller brains, lower combined ventricular output, ascending aorta, superior caval vien and umbilical vein flows, lower oxygen saturation in ascending aorta and superior caval vien, lower cDO2 and cVO2 (p < 0.05). Superior caval vien/combined ventricular output and descending aorta/combined ventricular output ratios were lower in fetuses with circular shunt (p < 0.05). Fetuses requiring the Starnes procedure tended to have smaller brains, lower combined ventricular output, superior caval vien, descending aorta, and umbilical vein flows.
CONCLUSIONS
All patients with Ebstein anomaly/tricuspid valve dysplasia are at high risk of neurodevelopmental delay and warrant follow-up. Fetal cardiovascular magnetic resonance revealed impaired brain growth with diminished cerebral blood flow and cDO2, the extenting dependent on the severity of the haemodynamic compromise.
Topics: Female; Humans; Ebstein Anomaly; Tricuspid Valve; Vena Cava, Superior; Retrospective Studies; Heart Defects, Congenital; Hemodynamics; Fetus
PubMed: 34986918
DOI: 10.1017/S1047951121004935 -
Circulation. Cardiovascular Imaging Feb 2021Left ventricular global longitudinal strain (LVGLS) can detect early phases of LV systolic dysfunction, but its application has not been studied in Ebstein anomaly. We...
BACKGROUND
Left ventricular global longitudinal strain (LVGLS) can detect early phases of LV systolic dysfunction, but its application has not been studied in Ebstein anomaly. We hypothesized that LVGLS can detect early phases of LV systolic dysfunction and that patients with occult LV systolic dysfunction will have worse hemodynamics, end-organ dysfunction, and suboptimal postoperative LV reverse remodeling after tricuspid valve surgery in comparison to patients with normal LV systolic function.
METHODS
In this retrospective cohort study, 371 Ebstein patients that underwent tricuspid valve surgery were divided into 3 groups: normal LV systolic function (normal LVGLS and LV ejection fraction; n=244, 77%), occult LV systolic dysfunction (abnormal LVGLS with normal LV ejection fraction; n=44, 14%), and overt LV systolic dysfunction (abnormal LVGLS and LV ejection fraction; n=27, 9%).
RESULTS
Compared with the normal LV function group, the occult group had smaller LV volume and cardiac output (2.1±0.4 versus 2.9±0.6 L/min per m, <0.001), worse end-organ dysfunction (glomerular filtration rate, 78±14 versus 91±18 mL/min per 1.73 m, =0.01), and suboptimal postoperative LV reverse remodeling. Although both the occult and overt groups had a similar degree of end-organ dysfunction (glomerular filtration rate, 78±14 versus 82±16 mL/min per 1.73 m, =0.3), the occult group was less likely to be on heart failure therapy (48% versus 96%, <0.001).
CONCLUSIONS
Abnormal LVGLS was associated with suboptimal postoperative LV reverse remodeling. These data suggest that LVGLS can potentially be used for risk stratification and provides a foundation for further studies to determine whether optimal heart failure therapy or tricuspid valve intervention can improve outcomes for LV systolic dysfunction in patients with Ebstein anomaly.
Topics: Adult; Cardiac Surgical Procedures; Ebstein Anomaly; Echocardiography; Female; Heart Ventricles; Humans; Male; Middle Aged; Retrospective Studies; Ventricular Dysfunction, Left; Ventricular Function, Left
PubMed: 33583197
DOI: 10.1161/CIRCIMAGING.120.011739 -
Journal of Magnetic Resonance Imaging :... Jun 2022
Editorial for "Improved Tricuspid Valve Function, Preload Recruitment and Ventricular Efficiency During Submaximal Exercise in Patients With Unoperated Ebstein's Anomaly: An MRI Study".
Topics: Ebstein Anomaly; Heart Ventricles; Humans; Magnetic Resonance Imaging; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 34618994
DOI: 10.1002/jmri.27952 -
Ultrasound in Obstetrics & Gynecology :... Jul 2023To compile a list of instant diagnoses of major fetal anomalies, and to present their sonographic descriptors and test them in a retrospective series of fetuses with...
OBJECTIVES
To compile a list of instant diagnoses of major fetal anomalies, and to present their sonographic descriptors and test them in a retrospective series of fetuses with congenital anomalies managed at our center.
METHODS
The first step was to identify major anomalies that meet the following criteria: (1) can be diagnosed directly and unequivocally on the basis of a set of descriptors evident on a single sonographic view; (2) are among those more commonly diagnosed in utero; (3) represent major lethal or life-threatening malformations or anomalies for which no or only palliative surgery can be performed. For each of these anomalies, a sonographic descriptor was produced. The second step was to test the descriptors of the instant diagnoses in all cases with these anomalies evaluated since January 2000 in our Fetal Medicine Unit, retrieved from our electronic database. For each congenital anomaly-sonographic descriptor pair we then evaluated the presence vs absence of an unequivocal relationship between anomaly and descriptor, assessing: whether a particular descriptor in a set reference plane identified unequivocally the anomaly, i.e. the same descriptor could not be found in any other malformation; and whether a particular anomaly presented the corresponding descriptor in all cases. Finally, we evaluated whether the sonographic descriptors could be applied in all trimesters or only selectively, considering the natural history of the 20 instant diagnoses.
RESULTS
Of the 20 instant diagnoses, five involved the central/peripheral nervous system (exencephaly/anencephaly, alobar/semilobar holoprosencephaly, cephalocele, open spinal dysraphism, complete agenesis of corpus callosum), five involved the heart (hypoplastic left heart syndrome, complete atrioventricular septal defect, severe Ebstein's anomaly, critical aortic stenosis, transposition of the great arteries), five involved the abdominal wall (left-sided congenital diaphragmatic hernia, exomphalos, gastroschisis, body-stalk anomaly) or gastrointestinal tract (duodenal atresia), and five involved the remaining systems (three urinary (autosomal recessive polycystic kidney disease, multicystic dysplastic kidney, lower urinary tract obstruction), two skeletal (transverse limb defect, radial ray defect)). All of the descriptors were found to identify unequivocally the related malformations, whereas four of the malformations were not associated with their reference descriptors in every case. For example, congenital diaphragmatic hernia (left-sided) presented without the stomach in the thorax in 42/93 (45.2%) cases. Due to the natural history of the condition, not all signs were recognizable in the first trimester, some becoming evident only from the second trimester onwards.
CONCLUSION
We have defined sonographic descriptors that enable an unequivocal instant diagnosis for a list of 20 major congenital anomalies: the 'INDIAMAN-20' (INstant DIAgnosis of Major ANomalies) protocol. We believe that using this approach may facilitate focused training of less experienced operators and that it may be incorporated into artificial intelligence and deep learning protocols, further boosting the instant prenatal recognition of these lethal or life-threatening malformations. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Pregnancy; Artificial Intelligence; Hernias, Diaphragmatic, Congenital; Pregnancy Trimester, First; Retrospective Studies; Transposition of Great Vessels; Ultrasonography, Prenatal
PubMed: 36484491
DOI: 10.1002/uog.26138