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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 -
Ultrasound in Obstetrics & Gynecology :... Feb 2020Tricuspid valve dysplasia (TVD) and Ebstein's anomaly (EA) diagnosed by fetal echocardiography vary greatly in terms of clinical severity and prognosis. The Celermajer...
OBJECTIVES
Tricuspid valve dysplasia (TVD) and Ebstein's anomaly (EA) diagnosed by fetal echocardiography vary greatly in terms of clinical severity and prognosis. The Celermajer index and Simpson-Andrews-Sharland (SAS) score have been reported previously for the prediction of prognosis in cases of TVD/EA; however, they do not take into account the hemodynamic impact of left ventricular (LV) function, which has recently been implicated as being important in the pathophysiology of TVD/EA. The aim of this study was to develop a novel scoring system that includes LV function for the prediction of perinatal death in fetuses diagnosed with TVD/EA.
METHODS
The clinical records of 36 fetuses diagnosed prenatally with TVD/EA between 2000 and 2015 in our hospital were reviewed. Univariate analysis was used to assess the association between perinatal death (defined as death between 22 weeks' gestation and 4 weeks after delivery) and gestational age at diagnosis, cardiothoracic area ratio (CTAR), degree of pulmonary artery flow, direction of ductal flow, right-to-left ventricular diameter ratio, tricuspid regurgitation (TR) maximum velocity, Celermajer index, SAS score and LV-Tei index. A new prognostic score, the TRIPP score (TRIcuspid malformation Prognosis Prediction score), was developed using the parameters found to be associated significantly with perinatal death. The predictive value of this score was assessed in an additional nine fetuses diagnosed with TVD/EA.
RESULTS
Thirty-six fetuses were diagnosed prenatally with TVD/EA, two of which were terminated, one was lost to follow-up and two died before 22 weeks' gestation. Of the 31 included fetuses, 10 (32%) died in the perinatal period. Univariate analysis demonstrated that TR maximum velocity was significantly lower (2.22 ± 0.17 m/s vs 3.26 ± 0.12 m/s; P < 0.001) and SAS score was significantly higher (5.7 ± 0.6 points vs 2.8 ± 0.4 points; P = 0.0014) in cases of perinatal death than in surviving fetuses. The degree of pulmonary artery flow and the direction of ductal flow were also associated significantly with perinatal death (P < 0.01 for both). Notably, LV-Tei index was significantly higher in cases of perinatal death than in surviving fetuses (0.81 ± 0.08 vs 0.50 ± 0.05; P < 0.001). In contrast, there was no significant difference in Celermajer index, CTAR or right-to-left ventricular diameter ratio. Finally, we established a novel combinatorial scoring system, the TRIPP score, including the four significant factors: TR maximum velocity, pulmonary artery flow, direction of ductal flow and LV-Tei index. The TRIPP score was found to predict efficiently perinatal mortality in fetuses with TVD/EA.
CONCLUSIONS
Our novel combinatorial score of echocardiographic parameters, the TRIPP score, including LV-Tei index, is easy to measure and provides a good tool for the prediction of perinatal mortality in fetuses diagnosed prenatally with TVD/EA. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.
Topics: Clinical Decision Rules; Ebstein Anomaly; Echocardiography; Female; Gestational Age; Heart Defects, Congenital; Humans; Infant, Newborn; Perinatal Death; Perinatal Mortality; Predictive Value of Tests; Pregnancy; Prenatal Diagnosis; Prognosis; Retrospective Studies; Tricuspid Valve; Tricuspid Valve Insufficiency; Ventricular Function, Left
PubMed: 31008542
DOI: 10.1002/uog.20302 -
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 -
Ultrasound in Obstetrics & Gynecology :... Dec 2021To characterize, using magnetic resonance imaging (MRI), the distribution of blood flow and oxygen transport in human fetuses with subtypes of congenital heart disease...
OBJECTIVES
To characterize, using magnetic resonance imaging (MRI), the distribution of blood flow and oxygen transport in human fetuses with subtypes of congenital heart disease (CHD) that present with neonatal cyanosis.
METHODS
Blood flow was measured in the major vessels of 152 late-gestation human fetuses with CHD and 40 gestational-age-matched normal fetuses, using cine phase-contrast MRI. Oxygen saturation (SaO ) was measured in the major vessels of 57 fetuses with CHD and 40 controls.
RESULTS
Compared with controls, we found lower combined ventricular output in fetuses with single-ventricle physiology, with the lowest being observed in fetuses with severe forms of Ebstein's anomaly. Obstructive lesions of the left or right heart were associated with increased flow across the contralateral side. Pulmonary blood flow was reduced in fetuses with Ebstein's anomaly, while those with Ebstein's anomaly and tricuspid atresia had reduced umbilical flow. Flow in the superior vena cava was elevated in fetuses with transposition of the great arteries, normal in fetuses with hypoplastic left heart, tetralogy of Fallot or tricuspid atresia and reduced in fetuses with Ebstein's anomaly. Umbilical vein SaO was reduced in fetuses with hypoplastic left heart or tetralogy of Fallot. Ascending aorta and superior vena cava SaO were reduced in nearly all CHD subtypes.
CONCLUSIONS
Fetuses with cyanotic CHD exhibit profound changes in the distribution of blood flow and oxygen transport, which result in changes in cerebral, pulmonary and placental blood flow and oxygenation. These alterations of fetal circulatory physiology may influence the neonatal course and help account for abnormalities of prenatal growth and development that have been described in newborns with cyanotic CHD. © 2021 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Case-Control Studies; Cyanosis; Ebstein Anomaly; Female; Fetus; Gestational Age; Heart Defects, Congenital; Hemodynamics; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Oxygen Saturation; Placental Circulation; Pregnancy; Prenatal Diagnosis; Tricuspid Atresia
PubMed: 34097323
DOI: 10.1002/uog.23707 -
JTCVS Open Dec 2022Neonatal presentation of Ebstein anomaly (EA) represents the most severe form of this condition. Despite significant advances, operative mortality remains high and...
OBJECTIVE
Neonatal presentation of Ebstein anomaly (EA) represents the most severe form of this condition. Despite significant advances, operative mortality remains high and management decisions represent a formidable challenge. We used a strategy aimed to match anatomy and physiology with type and time of intervention to increase survival.
METHODS
We performed a review of all patients with fetal or neonatal diagnosis of EA managed at a single center between 2007 and 2020.
RESULTS
Among 18 patients with EA, 8 underwent neonatal intervention. The most common indication included cyanosis and heart failure (8/8), end organ dysfunction (6/8), and maldistribution of cardiac output (6/8). Only 2/8 had antegrade pulmonary blood flow. Associated conditions included pulmonary regurgitation in 4/8, atrial tachyarrhythmia in 4, and a ventricular septal defect in 3. Three patients underwent initial stabilization with main pulmonary artery occlusion including bilateral pulmonary artery banding in 2. Five patients underwent biventricular repair with conversion to right ventricle exclusion in 2 cases. Three others underwent the Starnes procedure as initially planned. The median age at surgery was 10 days (range, 1-30) and median weight 2.6 kg (range, 1.9-4.0). The median duration of mechanical ventilation and intensive care unit stay were 9 days (range, 5-34) and 30 days (range, 15-100), respectively. Operative mortality was 1/8. At a median follow-up of 130 months (range, 5-146), there were no late deaths, and all survivors remain in functional class I and free of valvular reintervention.
CONCLUSIONS
Symptomatic neonates with EA can be effectively managed with good outcomes. Preoperative stabilization and choice of management pathway on the basis of anatomy and physiology can help reduce morbidity and mortality.
PubMed: 36590729
DOI: 10.1016/j.xjon.2022.09.007 -
Ultrasound in Obstetrics & Gynecology :... May 2023To investigate the criteria, based on fetal TR waveforms in late gestation, to predict biventricular circulation (BV) after birth in cases of tricuspid valve dysplasia...
OBJECTIVE
To investigate the criteria, based on fetal TR waveforms in late gestation, to predict biventricular circulation (BV) after birth in cases of tricuspid valve dysplasia (TVD) or Ebstein's anomaly diagnosed during the fetal period.
METHODS
We included 35 consecutive cases diagnosed with TVD or Ebstein's anomaly during the fetal period between January 2008 and December 2021 at Kanagawa Children's Medical Center, Kanagawa, Japan. The maximum velocity and change in pressure over time of tricuspid regurgitation (TR) jet (dP/dt), estimated using TR waveforms obtained during the late-gestation period (gestational age ≥ 28 weeks), were collected from patient records. dP/dt was calculated by dividing the change in estimated right ventricular pressure obtained using Bernoulli's principle by the time taken for the TR maximum velocity to change from one-third to two-thirds of its peak value. The outcome was divided into four categories: BV, single ventricular circulation, neonatal death and fetal death. Patients with BV were included in the BV group, while patients with single ventricular circulation, neonatal death or fetal death were included in the non-BV (NBV) group.
RESULTS
Overall, 19 and 16 patients were included in the BV and NBV groups, respectively. The median TR maximum velocity was 3.3 (range, 2.4-3.6) m/s in the BV group and 1.9 (range, 1.0-3.3) m/s in the NBV group. There were no cases of postnatal BV in fetuses with TR maximum velocity < 2.4 m/s; cases with TR maximum velocity of 2.4-3.3 m/s were observed in both BV and NBV groups. Receiver-operating-characteristics-curve analysis was performed on the 11 patients in the BV group and five patients in the NBV group with a TR maximum velocity of 2.4-3.3 m/s. dP/dt ≥ 350 mmHg/s and TR maximum velocity ≥ 2.9 m/s were identified as criteria for predicting the outcome in such cases. The performance of dP/dt ≥ 350 mmHg/s in predicting BV after birth in fetuses with TVD or Ebstein's anomaly was higher compared to that of TR maximum velocity ≥ 2.9 m/s (sensitivity, 90.9% vs 72.3% and specificity, 80.0% vs 80.0%, respectively).
CONCLUSIONS
In fetuses with TVD or Ebstein's anomaly, the postnatal outcome may be BV or NBV when the TR maximum velocity is 2.4-3.3 m/s. In such cases, by combining the TR maximum velocity with dP/dt ≥ 350 mmHg/s, BV after birth may be predicted with greater accuracy. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Child; Infant, Newborn; Female; Humans; Pregnancy; Infant; Ebstein Anomaly; Tricuspid Valve Insufficiency; Tricuspid Valve; Perinatal Death; Fetal Death; Fetus; Parturition; Retrospective Studies
PubMed: 36273401
DOI: 10.1002/uog.26097 -
Cardiovascular Diagnosis and Therapy Apr 2021Arrhythmias are among the most common late complications in adults with congenital heart disease (ACHD) and a frequent reason for hospital admission. Both,... (Review)
Review
Arrhythmias are among the most common late complications in adults with congenital heart disease (ACHD) and a frequent reason for hospital admission. Both, supraventricular and ventricular arrhythmias, not only cause debilitating symptoms, but may be life-threatening by increasing risk of stroke, causing or worsening heart failure and being associated with sudden death. Substrate and risk for arrhythmia differs widely between congenital defects with specific arrhythmias being much more common in some patients than others. Atrial macroreentrant arrhythmias are particularly frequent in patients with atrial septal defects and repair that involves atrial incisions including patients with transposition of the great arteries (TGA) and atrial switch. Accessory pathways and related arrhythmias are often associated with Ebstein's anomaly and congenitally corrected TGA. Monomorphic ventricular arrhythmias occur in patients with ventricular incisions, namely patients with Tetralogy of Fallot. Changes in surgical repair techniques influence arrhythmia prevalence and substrate as well as anatomical access for catheter ablation procedures. In addition, epidemiologic changes associated with improved long-term survival will further increase the prevalence of atrial fibrillation in ACHD. This article summarizes current understanding of prevalence of specific arrhythmias, underlying mechanisms, medical and interventional treatment options and their outcome in ACHD.
PubMed: 33968633
DOI: 10.21037/cdt-20-634 -
The Journal of Thoracic and... Mar 2021
Topics: Ebstein Anomaly; Echocardiography; Gold; Humans; Magnetic Resonance Imaging; Silver
PubMed: 33422316
DOI: 10.1016/j.jtcvs.2020.11.016 -
BMC Ophthalmology Feb 2022To present a case with Ebstein anomaly, a rare congenital heart disorder, with ophthalmological and neurophthalmological signs and symptoms. To date, retinal venous...
BACKGROUND
To present a case with Ebstein anomaly, a rare congenital heart disorder, with ophthalmological and neurophthalmological signs and symptoms. To date, retinal venous dilatation and visual snow syndrome have not been previously been published in this anomaly.
CASE PRESENTATION
A 10-year-old white girl was diagnosed with Ebstein anomaly. From age 12, she regularly suffered from migraines with auras and photophobia. At age 16 she started to see short-term bouts of white snow, that after a year were present all day. At age 20, she was found to have a decreased retinal arteriovenous ratio.
CONCLUSIONS
Retinal arterial tortuosity and venular dilatation are common in congenital heart disease but have not been described in Ebstein anomaly, nor has the visual snow syndrome.
Topics: Adolescent; Adult; Child; Dilatation; Ebstein Anomaly; Female; Humans; Migraine Disorders; Migraine with Aura; Vision Disorders; Young Adult
PubMed: 35164715
DOI: 10.1186/s12886-022-02288-z -
Annals of Medicine and Surgery (2012) Dec 2022and importance: Ebstein's anomaly (EA) is a rare congenital heart disease characterized by apical displacement of the tricuspid valve associated with atrialization of...
INTRODUCTION
and importance: Ebstein's anomaly (EA) is a rare congenital heart disease characterized by apical displacement of the tricuspid valve associated with atrialization of the right ventricle. Most of the cases are diagnosed in childhood but asymptomatic cases may remain undiagnosed and survive until old age.
CASE PRESENTATION
We present a rare case of Ebstein's Anomaly with pericardial effusion which was diagnosed for the first time in her mid-fifties when she developed atrial fibrillation and right heart failure with severe tricuspid regurgitation, which was managed medically.
CLINICAL DISCUSSION
The patient with Ebstein's anomaly can be found even at an older age with variable presentation and the association with pericardial effusion although very rare can present in such patients.
CONCLUSION
Ebstein's anomaly despite being a rare congenital condition can present clinically even beyond the age of fifty without any previous diagnosis and surgical intervention for the condition. It usually presents with features of heart failure and arrhythmia but can also have a rare association like pericardial effusion.
PubMed: 36582865
DOI: 10.1016/j.amsu.2022.104821