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Endocardial Fibroelastosis

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Misdiagnosis of anomalous origin of the left coronary artery from the pulmonary artery by echocardiography: Single-center experience from China.

Shan Lin, Mingxing Xie, Qing Lv, Jing Wang, Lin He, Bin Wang, Yuman Li, Lingling Xu, Yali Yang,

OBJECTIVES:To identify the risk factors causing misdiagnosis by echocardiography and missed diagnosis of anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA). MATERIALS AND METHODS:Echocardiographic results of 16 patients with ALCAPA confirmed by surgery in Union Hospital, Wuhan, were analyzed retrospectively. The influencing factors leading to echocardiographic ... Read more >>

Echocardiography (Echocardiography (Mount Kisco, N.Y.))
[2020, 37(1):104-113]

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Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

Geoffroy Delplancq, Georges Tarris, Antonio Vitobello, Sophie Nambot, Arthur Sorlin, Christophe Philippe, Virginie Carmignac, Yannis Duffourd, Charlotte Denis, Jean Christophe Eicher, Martin Chevarin, Gilles Millat, Bouchra Khallouk, Thierry Rousseau, Sylvie Falcon-Eicher, Alexandre Vasiljevic, Fara T Harizay, Christel Thauvin-Robinet, Laurence Faivre, Paul Kuentz,

PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular ... Read more >>

Am J Med Genet C Semin Med Genet (American journal of medical genetics. Part C, Seminars in medical genetics)
[2020, 184(1):129-135]

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Atrial septum stenting in a foetus with hypoplastic left heart syndrome and restrictive foramen ovale: an alternative to emergency atrioseptectomy in the newborn-a case report.

Andreas Tulzer, Wolfgang Arzt, Christoph Prandstetter, Gerald Tulzer,

Background:In patients with hypoplastic left heart syndrome (HLHS) premature closure or restriction of the interatrial communication causes severe cyanosis directly after birth with rapid deterioration in clinical state. An ex-utero intrapartum treatment (EXIT) procedure, extracorporal membrane oxygenation (ECMO), and emergency interventional cardiac catheterization or cardiac surgery has to be anticipated ... Read more >>

Eur Heart J Case Rep (European heart journal. Case reports)
[2020, 4(1):1-4]

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Anticipation, Accompaniment, and a Good Death in Perinatal Care.

Bryanna S Moore, Brian S Carter, Bryan Beaven, Katie House, Joel House,

The ethics of perinatal care, and the experiences of families who receive such care, remains a nascent area of inquiry. It can be hard to see how existing "good death" constructs apply to the experiences of fetal patients and their families. In this paper, we explore two themes raised by ... Read more >>

Yale J Biol Med (The Yale journal of biology and medicine)
[2019, 92(4):741-745]

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Arrhythmia and/or Cardiomyopathy Related to Maternal Autoantibodies: Descriptive Analysis of a Series of 16 Cases From a Single Center.

Benzhen Wang, Sujuan Hu, Degong Shi, Zhen Bing, Zipu Li,

Objective: To describe the clinical characteristics of maternal autoantibody-mediated arrhythmia and/or cardiomyopathy, and to explore the therapeutic role of glucocorticoids in these diseases. Methods: This was a retrospective observational study of 2 fetuses and 14 children who presented with autoantibody-mediated arrhythmia and/or cardiomyopathy in our hospital from September 2010 to ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:465]

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Echocardiographic diagnosis of anomalous origin of the left coronary artery from the pulmonary artery.

Xin-Chun Yuan, Jia Hu, Xi Zeng, Ai-Yun Zhou, Li Chen,

The aim of this research is to investigate the application value of TTE in the diagnosis of the anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA).The echocardiographic findings of 11 patients with ALCAPA confirmed by surgery in our hospital from October 2007 to December 2018 were ... Read more >>

Medicine (Baltimore) (Medicine)
[2019, 98(47):e18046]

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Flow disturbances and the development of endocardial fibroelastosis.

Viktoria Weixler, Gerald R Marx, Peter E Hammer, Sitaram M Emani, Pedro J Del Nido, Ingeborg Friehs,

OBJECTIVES:Endothelial-to-mesenchymal transition (EndMT) has been identified as the underlying mechanism of endocardial fibroelastosis (EFE) formation. The purpose of this study was to determine whether hemodynamic alterations due to valvar defects promote EndMT and whether age-specific structural changes affect ventricular diastolic compliance despite extensive surgical resection of EFE tissue. MATERIAL AND ... Read more >>

J. Thorac. Cardiovasc. Surg. (The Journal of thoracic and cardiovascular surgery)
[2019, :]

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Mucopolysaccharidosis type VI: case report with first neonatal presentation with ascites fetalis and rapidly progressive cardiac manifestation.

Rachel Sayuri Honjo, Evelyn Cristina Nuñez Vaca, Gabriela Nunes Leal, Deipara Monteiro Abellan, Nana Miura Ikari, Marcelo Biscegli Jatene, Ana Maria Martins, Chong Ae Kim,

BACKGROUND:The Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome (OMIM 253200) is an autosomal recessive lysosomal disorder, caused by the deficiency of the enzyme N-acetylgalactosamine 4-sulfatase (also known as arylsulfatase B) due to mutations of the ARSB gene. Cardiologic features are well recognized, and are always present in ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):37]

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Autoimmune-mediated congenital heart block.

Benjamin Wainwright, Rohit Bhan, Catherine Trad, Rebecca Cohen, Amit Saxena, Jill Buyon, Peter Izmirly,

Autoimmune-mediated congenital heart block (CHB) is a severe manifestation of neonatal lupus in which conduction tissues of the fetal heart are damaged. This occurs due to passive transference of maternal anti-SSA/Ro and anti-SSB/La autoantibodies and subsequent inflammation and fibrosis of the atrioventricular (AV) node. Notably, the disease manifests after the ... Read more >>

Best Pract Res Clin Obstet Gynaecol (Best practice & research. Clinical obstetrics & gynaecology)
[2019, :]

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Commentary: Why do some patients with hypoplastic left heart syndrome have endocardial fibroelastosis?

Robert H Anderson, Elizabeth H Stephens, Carl L Backer, Diane E Spicer,

J. Thorac. Cardiovasc. Surg. (The Journal of thoracic and cardiovascular surgery)
[2019, :]

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Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature.

Richard U Garcia, Raya Safa, Chelsea Evans, Dominic Alessio, Ralph Delius, Bahig Shehata,

We present the case of a 7-week-old male infant diagnosed with anomalous left coronary artery from the pulmonary artery (ALCAPA) who underwent repair by left coronary artery reimplantation, followed by an eventful postoperative period including need for venous arterial extracorporeal membrane oxygenation and mitral valve replacement due to mitral calcification ... Read more >>

Ann Pediatr Cardiol (Annals of pediatric cardiology)
[2019, 12(3):298-301]

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Can machine learning improve patient selection for cardiac resynchronization therapy?

Szu-Yeu Hu, Enrico Santus, Alexander W Forsyth, Devvrat Malhotra, Josh Haimson, Neal A Chatterjee, Daniel B Kramer, Regina Barzilay, James A Tulsky, Charlotta Lindvall,

RATIONALE:Multiple clinical trials support the effectiveness of cardiac resynchronization therapy (CRT); however, optimal patient selection remains challenging due to substantial treatment heterogeneity among patients who meet the clinical practice guidelines. OBJECTIVE:To apply machine learning to create an algorithm that predicts CRT outcome using electronic health record (EHR) data avaible before ... Read more >>

PLoS ONE (PloS one)
[2019, 14(10):e0222397]

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A Case of Isolated Left Ventricular Non-Compaction Cardiomyopathy in a HIV Patient Presenting With Acute Heart Failure.

Bibi Ayesha, Rafeeq Ahmed, Umut Gomceli, Carlos Manrique, Marin Nicu, Sridhar Chilimuri,

The etiology of cardiomyopathy in a HIV patient is multifactorial. Identifying the etiology of cardiomyopathy in a HIV patient needs extensive evaluation. Common causes include ischemic cardiomyopathy, myocarditis due to viral infections and opportunistic infections, cocaine abuse, alcoholic heart disease, drug toxicity or due to nutritional deficiencies. However, in a ... Read more >>

Cardiol Res (Cardiology research)
[2019, 10(4):236-240]

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Diagnosis and treatment of abnormal left coronary artery originating from the pulmonary artery: A single-center experience.

Kahraman Yakut, Niyazi Kursad Tokel, Murat Ozkan, Birgul Varan, Ilkay Erdogan, Mehmet Sait Aslamaci,

OBJECTIVE:We aimed to review symptoms, findings, surgical treatment options, short- and mid-term outcomes, and reoperation rate of patients diagnosed with of left coronary artery from the pulmonary artery (ALCAPA) of an anomalous origin in our institution. METHODS:From May 2000 to March 2018, 33 patients who had left coronary artery originating ... Read more >>

Anatol J Cardiol (Anatolian journal of cardiology)
[2019, 22(6):325-331]

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An illustrative case of endocardial fibroelastosis and recalcitrant intracardiac thrombosis: a case report.

Denizhan Ozdemir, Isabel Oliva Cortopassi, Robert Lawrence McNamara,

Background:Endocardial Fibroelastosis is diffuse, accentuated proliferation of ventricular endocardium causing a rare form of restrictive cardiomyopathy in both children and adults. It is an incompletely understood cause of heart failure predominantly in Sub-Saharan Africa associated with high morbidity and mortality. Atrial fibrillation and thrombus formation are common accompanying complications and ... Read more >>

Thromb J (Thrombosis journal)
[2019, 17:8]

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Prediction of biventricular repair by echocardiography in borderline ventricle.

Xiao-Jing Ma, Guo-Ying Huang,

OBJECTIVE:In recent years, attempting the biventricular pathway or biventricular conversions in patients with borderline ventricle has become a hot topic. However, inappropriate pursuit of biventricular repair in borderline candidates will lead to adverse clinical outcomes. Therefore, it is important to accurately assess the degree of ventricular development before operation and ... Read more >>

Chin. Med. J. (Chinese medical journal)
[2019, 132(17):2105-2108]

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Flow disturbances and progression of endocardial fibroelastosis - a case report.

Viktoria Weixler, Peter E Hammer, Gerald R Marx, Sitaram M Emani, Pedro J Del Nido, Ingeborg Friehs,

Endocardial fibroelastosis (EFE) is described as thickening of the endocardium and is associated with hypoplastic left heart syndrome (HLHS). The stimulus for EFE and the mechanism for recurrence and/or progression need to be investigated. In this report, we describe the case of a 4-year-old HLHS patient who underwent several surgeries ... Read more >>

Cardiovasc. Pathol. (Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology)
[2019, 42:1-3]

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Barth Syndrome: Exploring Cardiac Metabolism with Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Erica M Fatica, Gina A DeLeonibus, Alisha House, Jillian V Kodger, Ryan W Pearce, Rohan R Shah, Liraz Levi, Yana Sandlers,

Barth syndrome (BTHS) is an X-linked recessive multisystem disorder caused by mutations in the TAZ gene (TAZ, G 4.5, OMIM 300394) that encodes for the acyltransferase tafazzin. This protein is highly expressed in the heart and plays a significant role in cardiolipin biosynthesis. Heart disease is the major clinical manifestation ... Read more >>

Metabolites (Metabolites)
[2019, 9(12):]

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Importance of Follow-Up and Early Detailed Evaluation in Early Onset Growth Restricted Fetuses.

M Miescu, O Carbunaru, C Constantin, M Novac, R Ciurea, A M Al Khatib, M Cara, A Riza Costache, M M Manolea, L Dijmarescu, L Novac, D Iliescu,

Early onset fetal growth restriction (EO-FGR) is associated with significant feto-maternal complications, therefore efforts should be made to identify the causes and the potential outcome of the pregnancy. Some of the pitfalls in first-trimester imaging of the fetal anomalies are related to the inadequacy of the examination, because of the ... Read more >>

Curr Health Sci J (Current health sciences journal)
[2019, 45(3):333-338]

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Papillary Fibroelastoma in the Left Ventricular Outflow Tract: An Unusual Location.

Ehrlich Tristan, Shunsuke Matsushima, Ulrich Schneider, Christian Giebels, Irem Karliova, Hans-Joachim Schäfers,

Ann. Thorac. Surg. (The Annals of thoracic surgery)
[2019, 108(3):e201]

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New Aspects in the Diagnosis and Therapy of Fetal Hypoplastic Left Heart Syndrome.

Oliver Graupner, Christian Enzensberger, Roland Axt-Fliedner,

Fetal hypoplastic left heart syndrome (HLHS) is a severe congenital heart disease with a lethal prognosis without postnatal therapeutic intervention or surgery. The aim of this article is to give a brief overview of new findings in the field of prenatal diagnosis and the therapy of HLHS. As cardiac output ... Read more >>

Geburtshilfe Frauenheilkd (Geburtshilfe und Frauenheilkunde)
[2019, 79(8):863-872]

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Emerging clinical applications of strain imaging and three-dimensional echocardiography for the assessment of ventricular function in adult congenital heart disease.

Michael Huntgeburth, Ingo Germund, Lianne M Geerdink, Narayanswami Sreeram, Floris E A Udink Ten Cate,

Management of congenital heart disease (CHD) in adults (ACHD) remains an ongoing challenge due to the presence of residual hemodynamic lesions and development of ventricular dysfunction in a large number of patients. Echocardiographic imaging plays a central role in clinical decision-making and selection of patients who will benefit most from ... Read more >>

Cardiovasc Diagn Ther (Cardiovascular diagnosis and therapy)
[2019, 9(Suppl 2):S326-S345]

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Prenatal Diagnosis and Successful Palliation of Absent Aortic Valve with Hypoplastic Left Heart Syndrome: A Case Report and Review of Literature.

Amna Qasim, Chelsea B Johnson, Muhammad A Aly, Ashraf M Aly,

Introduction  Congenital absence of the aortic valve leaflets is a rare association with hypoplastic left heart syndrome (HLHS). Case  A 37-year-old pregnant woman was referred for fetal evaluation of possible HLHS at 22 weeks of gestation. The fetal echocardiogram (ECHO) was remarkable for a hypoplastic left atrium, nearly atretic mitral ... Read more >>

AJP Rep (AJP reports)
[2019, 9(2):e121-e126]

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Hypoplastic Left Heart Syndrome: A New Paradigm for an Old Disease?

Paul Grossfeld, Shuyi Nie, Lizhu Lin, Lu Wang, Robert H Anderson,

Hypoplastic left heart syndrome occurs in up to 3% of all infants born with congenital heart disease and is a leading cause of death in this population. Although there is strong evidence for a genetic component, a specific genetic cause is only known in a small subset of patients, consistent ... Read more >>

J Cardiovasc Dev Dis (Journal of cardiovascular development and disease)
[2019, 6(1):]

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Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat.

Erwin K Gudenschwager, Jonathan A Abbott, Tanya LeRoith,

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by ventricular chamber dilation associated with systolic myocardial dysfunction in the absence of other cardiac lesions. DCM occasionally develops in conjunction with proliferation of fibroelastic fibers in the endocardium, producing endocardial fibroelastosis (EFE). Although early reports describe EFE as a primary disease, ... Read more >>

J. Vet. Diagn. Invest. (Journal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc)
[2019, 31(2):289-293]

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