JIMD Reports, 2023 We report a unique case of an infant with a severe dilated cardiomyopathy as the clinical presentation of sialidosis type II (OMIM 256550), a rare autosomal recessive inherited lysosomal storage disease that is characterized by partial or complete ...
Margot Eyskens +3 more
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Distention of the Immature Left Ventricle Triggers Development of Endocardial Fibroelastosis: An Animal Model of Endocardial Fibroelastosis Introducing Morphopathological Features of Evolving Fetal Hypoplastic Left Heart Syndrome. [PDF]
Biomed Res Int, 2015 Background. Endocardial fibroelastosis (EFE), characterized by a diffuse endocardial thickening through collagen and elastin fibers, develops in the human fetal heart restricting growth of the left ventricle (LV).
Shimada S +5 more
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Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. [PDF]
Am J Med Genet A, 2022 Abstract The Nexilin F‐Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z‐disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous variants in NEXN cause a lethal form of human fetal
Johansson J +12 more
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Spontaneous interventricular septum dissecting hematoma with endocardial fibroelastosis: imaging, diagnosis, surgical therapy and 6-year follow-up outcomes. [PDF]
Quant Imaging Med Surg, 2020 Zhang N, Hu Q, Li Y, Liu J, Xu L, Sun Z.
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Untreated ALCAPA diagnosed in gestational ultrasonography [PDF]
Radiology Case ReportsALCAPA is a rare congenital anomaly that presents with left ventricular (LV) dysfunction and mitral valve regurgitation. The mortality rate is roughly 90% if the intracoronary collateral isn't significantly augmented.
Lam Truong Hoai, MD +5 more
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Pulmonary artery banding for dilated cardiomyopathy in children: report of 3 cases [PDF]
BMC PediatricsBackground Pulmonary artery banding (PAB) has emerged as a promising surgical treatment for pediatric dilated cardiomyopathy (DCM) in recent years. However, clinical evidence supporting its efficacy remains limited. This study reports on three cases with
Linghan Meng +6 more
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Fetal cardiofibroelastosis - a consequence of anti-Ro maternal transfer during pregnancy. Case report and review of the literature [PDF]
Romanian Journal of Rheumatology, 2022 With scarcely any reports published on the association of fetal endocardial fibroelastosis and Ro antibodies maternal transfer during pregnancy, this subject continues to raise concern among health care providers around the world, especially when ...
Ana Duminica Turcu
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Endocardium in Hypoplastic Left Heart Syndrome: Implications from In Vitro Study
Journal of Cardiovascular Development and Disease, 2022 Endocardium lines the inner layer of the heart ventricle and serves as the source of valve endothelial cells and interstitial cells. Previously, endocardium-associated abnormalities in hypoplastic left heart syndrome (HLHS) have been reported, including ...
Zhiyun Yu +4 more
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Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2022 Background Transplacental fetal treatment of immune‐mediated fetal heart disease, including third‐degree atrioventricular block (AVB III) and endocardial fibroelastosis, is controversial.
Wadi Mawad +9 more
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Endocardial Fibroelastosis [PDF]
Circulation, 1958 Endocardial fibroelastosis is an important cause of congestive heart failure and death in infancy and early childhood. Four cases of this entity are described, with particular attention to the unique angiocardiographic features. This graphic portrayal of the functional derangement may be of great help in the clinical diagnosis of fibroelastosis.
L M, LINDE, F H, ADAMS, B J, O'LOUGHLIN
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