Dynamic Slow-Motion Display in the Diagnosis of Functional Pulmonary Atresia in Fetal Ebstein Anomaly.
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ABSTRACT:
SUBMITTER: Inamura N
PROVIDER: S-EPMC7175753 | biostudies-literature | 2020 Apr
REPOSITORIES: biostudies-literature
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Project description: Not available
| S-EPMC6237949 | biostudies-literature
Project description:Ebstein's anomaly was diagnosed in a fetus at 24 weeks of gestation. There was significant cardiomegaly and severe tricuspid regurgitation (TR). There was functional pulmonary atresia with severe pulmonary regurgitation (PR) and this was causing a circular shunt. There was no fetal hydrops.
| S-EPMC4608207 | biostudies-literature
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| S-EPMC8226328 | biostudies-literature
Project description:Tetralogy of Fallot with pulmonary atresia, a severe form of tetralogy of Fallot, is characterized by the absence of flow from the right ventricle to the pulmonary arteries. This cardiac abnormality is challenging and complex due to its many different anatomic variants. The main source of variability is the pulmonary artery anatomy, ranging from well-formed, confluent pulmonary artery branches to completely absent native pulmonary arteries replaced by major aorto-pulmonary collateral arteries (MAPCAs) that provide all of the pulmonary blood flow. Since the four-chamber view is usually normal on prenatal sonography, the diagnosis may be missed unless additional cardiac views are studied. Fetal Intelligent Navigation Echocardiography (FINE) is a novel method developed recently that allows automatic generation of nine standard fetal echocardiography views in normal hearts by applying "intelligent navigation" technology to spatiotemporal image correlation volume datasets. We report herein for the first time, two different cases of tetralogy of Fallot with pulmonary atresia having variable sources of pulmonary blood flow in which the prenatal diagnosis was made successfully using the FINE method. Virtual Intelligent Sonographer Assistance (VIS-Assistance®) and automatic labeling (both features of FINE) were very helpful in making such diagnosis.
| S-EPMC6334643 | biostudies-literature
Project description:Ebstein anomaly (EA) is a rare congenital defect characterized by apical displacement of the septal tricuspid leaflets and atrialization of the right ventricle. The etiology of EA is unclear; however, recurrence in families and the association of EA with genetic syndromes and copy number variants (CNVs) suggest a genetic component.We performed a population-based study to search for recurrent and novel CNVs in a previously unreported set of EA cases.We genotyped 60 EA cases identified from all live births (2,891,076) from selected California counties (1991-2010) using the Illumina HumanOmni2.5-8 array. We identified 38 candidate CNVs in 28 (46%) cases and prioritized and validated 11 CNVs based on the genes included.Five CNVs (41%) overlapped or were close to genes involved in early myocardial development, including NODAL, PDLIM5, SIX1, ASF1A and FGF12. We also replicated a previous association of EA with CNVs at 1p34.1 and AKAP12. Finally, we identified four CNVs overlapping or in close proximity to the transcription factors HES3, TRIM71, CUX1 and EIF4EBP2.This study supports the relationship of genetic factors to EA and demonstrates that defects in cardiomyocytes and myocardium differentiation may play a role. Abnormal differentiation of cardiomyocytes and how genetic factors contribute should be examined for their association with EA.
| S-EPMC5720705 | biostudies-other
Project description:BackgroundEbstein anomaly (EA) is a heterogeneous congenital heart defect (CHD), frequently accompanied by diverse cardiac and extracardiac comorbidities, resulting in a wide range of clinical outcomes.HypothesisPhenotypic characterization of EA patients has the potential to identify variables that influence prognosis and subgroups with distinct contributing factors.MethodsA comprehensive cross-sectional phenotypic characterization of 147 EA patients from one of the main referral institutions for CHD in Colombia was carried out. The most prevalent comorbidities and distinct subgroups within the patient cohort were identified through cluster analysis.ResultsThe most prevalent cardiac comorbidities identified were atrial septal defect (61%), Wolff-Parkinson-White syndrome (WPW; 27%), and right ventricular outflow tract obstruction (25%). Cluster analysis showed that patients can be classified into 2 distinct subgroups with defined phenotypes that determine disease severity and survival. Patients in cluster 1 represented a particularly homogeneous subgroup with a milder spectrum of disease, including only patients with WPW and/or supraventricular tachycardia (SVT). Cluster 2 included patients with more diverse cardiovascular comorbidities.ConclusionsThis study represents one of the largest phenotypic characterizations of EA patients reported. The data show that EA is a heterogeneous disease, very frequently associated with cardiovascular and noncardiovascular comorbidities. Patients with WPW and SVT represent a homogeneous subgroup that presents with a less severe spectrum of disease and better survival when adequately managed. This should be considered when searching for genetic causes of EA and in the clinical setting.
| S-EPMC6489938 | biostudies-literature
Project description:This report is of a patient with pure trisomy of 15q24-qter who presents with the rare Ebstein anomaly and a previously unreported skeletal anomaly. Chromosome microarray analysis allowed high-resolution identification of the extent of the trisomy and provided a means of achieving higher-resolution breakpoint data. The phenotypic expression of unbalanced chromosomal regions is a complex phenomenon, and fine mapping of the involved region, as described here, is only a first step on the path to its full understanding. Overexpression of the LINGO-1 and CSPG4 genes has been implicated in developmental delay seen in other patients with trisomy of 15q24-qter, but our patient is currently too young to ascertain developmental progress. The genetic underpinning of Ebstein anomaly and the skeletal anomaly reported here is unclear based on our high-resolution dosage mapping.
| S-EPMC3447219 | biostudies-literature
Project description:Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. The tricuspid valve abnormalities can lead to backflow of blood from the right ventricle to the right atrium, preventing proper circulation of blood to the lungs. Although the etiology of EA is largely unresolved, increased prevalence of EA in those with a family history of congenital heart disease suggests EA has a genetic component. Copy number variants (CNVs) are a major source of genetic variation and have been implicated in a range of congenital heart defect phenotypes. We performed a systematic, genome-wide search for CNVs in 47 isolated EA cases using genotyping microarrays. In addition, we used a custom HaloPlex panel to sequence three known EA genes and 47 candidate EA genes. We identified 35 candidate CNVs in 24 (51%) EA cases. Rare sequence variants in genes associated with cardiomyopathy were identified in 11 (23%) EA cases. Two CNVs near the transcriptional repressor HEY1, a member of the NOTCH signaling pathway, were identified in three unrelated cases. All other candidate CNVs were each identified in a single case. At least 11 of 35 candidate CNVs include genes involved in myocardial development or function, including multiple genes in the BMP signaling pathway. We identified enrichment of gene sets involved in histone modification and cardiomyocyte differentiation, supporting the involvement of the developing myocardium in the etiology of EA. Gene set enrichment analysis also identified ribosomal RNA processing, a potentially novel pathway of altered cardiac development in EA. Our results suggest an altered myocardial program may contribute to abnormal tricuspid valve development in EA. Future studies should investigate abnormal differentiation of cardiomyocytes as a potential etiological factor in EA.
| S-EPMC5082909 | biostudies-literature
Project description:BackgroundHepatorenal dysfunction is a risk factor for mortality in patients with chronic tricuspid regurgitation due to acquired heart disease. Ebstein anomaly is the most common cause of primary tricuspid regurgitation in adults with congenital heart disease, but the prevalence and prognostic implications of hepatorenal dysfunction are unknown in this population.ObjectivesThe purpose of this study was to determine the risk factors and prognostic implications of hepatorenal dysfunction, as measured primarily by the use of model for end-stage liver disease excluding international normalized ratio (MELD-XI score), as well as looking at other associated factors.MethodsThis was a retrospective study of adults with Ebstein anomaly who received care at Mayo Clinic from 2003 to 2018.ResultsOf 692 patients, the median MELD-XI score was 10.2 (interquartile range: 9.4 to 13.3); 53 (8%) died and 3 (0.4%) underwent heart transplant. MELD-XI was an independent predictor of death/transplant (hazard ratio: 1.32; 95% confidence interval: 1.11 to 2.06; p < 0.001). In the subset of patients with serial MELD-XI scores (n = 416), temporal change in MELD-XI score (ΔMELD-XI) was also a predictor of death/transplant. In the subset of patients who underwent tricuspid valve surgery (n = 344), a post-operative improvement in MELD-XI score (ΔMELD-XI) was associated with improved long-term survival. Impaired right atrial (RA) reservoir strain and elevated estimated RA pressure were associated with worse baseline MELD-XI and ΔMELD-XI scores.ConclusionsHepatorenal dysfunction is a predictor of mortality in Ebstein anomaly, and RA dysfunction and hypertension are hemodynamic biomarkers that can identify patients at risk for deterioration in hepatorenal function and mortality. These data highlight the prognostic importance of noncardiac organ-system dysfunction, and provide complementary clinical risk stratification metrics for management of these patients.
| S-EPMC7755072 | biostudies-literature
Project description:Ebstein anomaly is characterized by deformities of the anterior leaflet of the tricuspid valve and atrialization of the right ventricle. Patients with severe tricuspid regurgitation are recommended to have tricuspid valve surgery with concomitant atrial septal defect closure. A 73-year-old female with Ebstein anomaly presented with severe hypoxemia. Transthoracic echocardiography revealed severe tricuspid regurgitation and a patent foramen ovale with right-to-left shunting. Complete percutaneous patent foramen ovale closure led to acute decompensation; however, partial closure led to hemodynamic stability and improved oxygenation. In conclusion, similar patients with "patent foramen ovale dependency" from longstanding shunts may benefit from partial patent foramen ovale closure.
| S-EPMC4405015 | biostudies-literature