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The Journal of Thoracic and... Jul 2021
Topics: Aortic Valve; Cardiac Surgical Procedures; Child; Child, Preschool; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Stem Cell Transplantation
PubMed: 33972113
DOI: 10.1016/j.jtcvs.2021.03.108 -
Heart Rhythm Jul 2020
Topics: Arrhythmias, Cardiac; Ebstein Anomaly; Heart; Humans
PubMed: 32380287
DOI: 10.1016/j.hrthm.2020.04.038 -
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 -
Diagnostics (Basel, Switzerland) Feb 2023Fetal heart failure (FHF) is a condition of inability of the fetal heart to deliver adequate blood flow for tissue perfusion in various organs, especially the brain,... (Review)
Review
Fetal heart failure (FHF) is a condition of inability of the fetal heart to deliver adequate blood flow for tissue perfusion in various organs, especially the brain, heart, liver and kidneys. FHF is associated with inadequate cardiac output, which is commonly encountered as the final outcome of several disorders and may lead to intrauterine fetal death or severe morbidity. Fetal echocardiography plays an important role in diagnosis of FHF as well as of the underlying causes. The main findings supporting the diagnosis of FHF include various signs of cardiac dysfunction, such as cardiomegaly, poor contractility, low cardiac output, increased central venous pressures, hydropic signs, and the findings of specific underlying disorders. This review will present a summary of the pathophysiology of fetal cardiac failure and practical points in fetal echocardiography for diagnosis of FHF, focusing on essential diagnostic techniques used in daily practice for evaluation of fetal cardiac function, such as myocardial performance index, arterial and systemic venous Doppler waveforms, shortening fraction, and cardiovascular profile score (CVPs), a combination of five echocardiographic markers indicative of fetal cardiovascular health. The common causes of FHF are reviewed and updated in detail, including fetal dysrhythmia, fetal anemia (e.g., alpha-thalassemia, parvovirus B19 infection, and twin anemia-polycythemia sequence), non-anemic volume load (e.g., twin-to-twin transfusion, arteriovenous malformations, and sacrococcygeal teratoma, etc.), increased afterload (intrauterine growth restriction and outflow tract obstruction, such as critical aortic stenosis), intrinsic myocardial disease (cardiomyopathies), congenital heart defects (Ebstein anomaly, hypoplastic heart, pulmonary stenosis with intact interventricular septum, etc.) and external cardiac compression. Understanding the pathophysiology and clinical courses of various etiologies of FHF can help physicians make prenatal diagnoses and serve as a guide for counseling, surveillance and management.
PubMed: 36832267
DOI: 10.3390/diagnostics13040779 -
JTCVS Techniques Oct 2021
PubMed: 34647082
DOI: 10.1016/j.xjtc.2021.06.012 -
JACC. Case Reports May 2020Tropical endomyocardial fibrosis is a common cause of restrictive cardiomyopathy worldwide, but is relatively rare in developed countries. We present a case of tropical...
Tropical endomyocardial fibrosis is a common cause of restrictive cardiomyopathy worldwide, but is relatively rare in developed countries. We present a case of tropical endomyocardial fibrosis with right ventricular involvement initially mistaken as Ebstein's anomaly. We highlight the need for timely and accurate diagnosis to ensure appropriate management. ().
PubMed: 34317354
DOI: 10.1016/j.jaccas.2020.02.020 -
The Journal of Thoracic and... Mar 2021To evaluate late-term tricuspid valve competence and biventricular function following cone reconstruction for Ebstein anomaly, and to explore biventricular remodeling.
OBJECTIVES
To evaluate late-term tricuspid valve competence and biventricular function following cone reconstruction for Ebstein anomaly, and to explore biventricular remodeling.
METHODS
Consecutive adult and pediatric patients who underwent cone reconstruction from 2009 to 2019 were reviewed for inclusion in this retrospective cardiac magnetic resonance imaging study. Tricuspid valve competence was assessed with tricuspid regurgitation fraction. Biventricular systolic function was assessed by ejection fraction, cardiac index, indexed stroke volume, and indexed aortic and pulmonary artery beat volume. Biventricular remodeling was assessed by planimetered areas (right atrium, functional right ventricle, left heart), and indexed end-diastolic and end-systolic ventricular volumes. Paired t tests or Wilcoxon signed-rank tests were used for analyses.
RESULTS
Of 58 included patients, 50 underwent cardiac magnetic resonance imaging. Twelve patients had both preoperative and late postoperative cardiac magnetic resonance imaging with a median follow-up of 5.11 years (interquartile range, 3.12-6.07 years). Focusing on these, tricuspid regurgitation fraction decreased (from 69% to 10%; P = .014), right ventricle ejection fraction remained stable, and antegrade pulmonary artery beat volume increased (from 26.7 to 41.6 mL/beat/m; P = .037). The left ventricle stroke volume (from 30.4 to 44.1 mL/m; P = .015) and antegrade aortic beat volume (from 28.5 to 41.1 mL/beat/m; P = .014) also increased, and the left ventricle stroke volume improved progressively with time since surgery (P = .048). Whereas the right atrium area decreased (P = .004), the functional right ventricle and left heart area increased (cm, P = .021 and P = .004). Right ventricle volumes showed a tendency to normalize and left ventricle indexed end-diastolic volume increased (from 50 to 69 mL/m; P = .03) over time.
CONCLUSIONS
Cone valve integrity was sustained. Biventricular function improved progressively during follow-up, and there are positive signs of biventricular remodeling late after cone reconstruction.
Topics: Adolescent; Cardiac Surgical Procedures; Child; Child, Preschool; Databases, Factual; Ebstein Anomaly; Female; Humans; London; Magnetic Resonance Imaging; Male; Recovery of Function; Retrospective Studies; Time Factors; Treatment Outcome; Tricuspid Valve; Ventricular Function, Left; Ventricular Function, Right; Ventricular Remodeling; Young Adult
PubMed: 33293067
DOI: 10.1016/j.jtcvs.2020.10.124 -
World Journal For Pediatric &... Nov 2020Ebstein anomaly has a breadth of presentations, including "typical" and "atypical," and can be confused with congenital tricuspid dysplasia. We summarize how to... (Review)
Review
Ebstein anomaly has a breadth of presentations, including "typical" and "atypical," and can be confused with congenital tricuspid dysplasia. We summarize how to differentiate within this spectrum of disease. Both typical and atypical Ebstein have an underlying failure of delamination, but atypical Ebstein does not have ≥8mm/m apical septal leaflet displacement. In congenital tricuspid dysplasia, delamination is normal, while the leaflets and subvalvar apparatus are abnormal. To summarize, the sine qua non feature of Ebstein anomaly, present in both typical and atypical, is the failure of delamination. These are distinct from congenital tricuspid valve dysplasia in which the pathology is in the leaflet itself.
Topics: Cardiac Surgical Procedures; Child; Ebstein Anomaly; Echocardiography; Humans; Tricuspid Valve
PubMed: 33164686
DOI: 10.1177/2150135120949235 -
Veterinary Research Forum : An... 2022A one and a half years old male French bulldog weighing 9.50 kg was presented with the history of inappetence, lethargy, abdominal distension and exercise intolerance...
A one and a half years old male French bulldog weighing 9.50 kg was presented with the history of inappetence, lethargy, abdominal distension and exercise intolerance since last 2 days. The physical examination was done which revealed normal physiological parameters including temperature, mucus membrane color and capillary refill time except palpable precordial thrills, jugular distension on palpation, tachycardia and systolic murmurs on auscultation. Electrocardiography (ECG) was done which depicted ectopic foci with atrioventricular junctional tachycardia and right ventricular enlargement involving very small inverted P waves, deep S waves in leads I, II, III and augmented vector foot (aVF) and splintered QRS complexes. The dog was undergone chest radiography that revealed right atrial enlargement, increased sternal contact of heart on lateral view and a bulge at 9:00 o'clock to 11:00 o'clock depicted right atrial enlargement on dorso-ventral view. Lastly, echocardiography was done to arrive at a diagnosis confirming the Ebstein's anomaly as a form of tricuspid valve dysplasia including apical displacement of tricuspid valve leaflets, division of right ventricle into atrialized and functional portions, increased displacement index, increased apex-mitral annulus to apex-tricuspid annulus ratio, severe right atrial dilatation and tricuspid regurgitation. The dog was medically treated with diuretics, angiotensin converting enzyme inhibitors and inotropes and the owner was advised to put the dog on low sodium diet for 2 weeks. The dog has resolved clinical signs of right sided heart affection; but, suddenly collapsed at home. The owner denied for the necropsy of dog.
PubMed: 36686865
DOI: 10.30466/vrf.2022.550981.3425 -
Journal of Obstetrics and Gynaecology :... May 2022Pregnancy complicated with uncorrected Ebstein's anomaly is uncommon and may pose a serious threat to maternal and foetal life in the clinical setting of altered... (Review)
Review
Pregnancy complicated with uncorrected Ebstein's anomaly is uncommon and may pose a serious threat to maternal and foetal life in the clinical setting of altered hemodynamics of pregnancy. Data of eight pregnancies in four women with Ebstein's anomaly who delivered in a tertiary care institute was analysed. Among the four women, one had associated atrial septal defect, one had pulmonary hypertension and three had right bundle branch block. There were two miscarriages and six successful pregnancies resulting in live births. Three of the pregnancies were delivered by caesarean section. There was one pregnancy complicated by severe preeclampsia, no preterm births or maternal cardiac complications. There was one neonate with congenital ostium secundum atrial septal defect. All patients were managed by a multidisciplinary team involving Obstetrician, Cardiologist, Anaesthesiologist and Neonatologist.IMPACT STATEMENT Ebstein's anomaly is a rare congenital anomaly with apical displacement of the septal tricuspid leaflet in association with leaflet dysplasia. It may cause varied presentation in pregnancy depending on the severity of the lesion. Ebstein's anomaly may become symptomatic for the first-time during pregnancy. Patients with NYHA class II symptoms and no cyanosis generally tolerate pregnancy well. Miscarriages and intrauterine growth restriction may occur in the presence of this condition. Vaginal delivery is advised and caesarean is done only for obstetric indications. The management of pregnancy with uncorrected Ebstein's anomaly is highly challenging especially in a low resource setting and requires tertiary centre care. Multidisciplinary team involvement can help to improve the outcomes in such pregnancies.
Topics: Abortion, Spontaneous; Cesarean Section; Cyanosis; Ebstein Anomaly; Female; Humans; Infant, Newborn; Pregnancy; Tertiary Care Centers
PubMed: 34404328
DOI: 10.1080/01443615.2021.1932777