Endocardial Fibroelastosis Is Caused by Aberrant Endothelial to Mesenchymal Transition [PDF]
Rationale: Endocardial fibroelastosis (EFE) is a unique form of fibrosis, which forms a de novo subendocardial tissue layer encapsulating the myocardium and stunting its growth, and which is typically associated with congenital heart diseases of ...
Raghu Kalluri +2 more
exaly +4 more sources
Increased fetal endocardial echogenicity mimicking endocardial fibroelastosis following maternal organophosphorus poisoning and its complete regression in utero [PDF]
Fetal endocardial fibroelastosis (EFE) has been diagnosed by antenatal ultrasonography in the past few years. A typical case of isolated endocardial fibroelastosis is illustrated here, in a fetus of 22 weeks of gestational age exposed to maternal ...
Karippaliyil Balakumar +2 more
doaj +2 more sources
Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis [PDF]
ObjectivesFour variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis.
Enkhsaikhan Purevjav, Takuro Arimura
exaly +4 more sources
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
doaj +2 more sources
Fibroelastosis cardíaca fetal Fetal cardiac fibroelastosis [PDF]
Se detalla el caso clínico de una gestante de 30 años (segundo trimestre del embarazo), residente en el poblado Siboney, quien asistió a la consulta de ecocardiografía fetal del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba,
Laura María Pons Porrata +4 more
doaj +1 more source
Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis. [PDF]
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.
Johansson J +12 more
europepmc +2 more sources
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome. [PDF]
Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated ...
Zhao Y +24 more
europepmc +3 more sources
Pulmonary artery banding for dilated cardiomyopathy in children: report of 3 cases [PDF]
Background 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
doaj +2 more sources
Multimodality Imaging and Pathologic Assessment in an Adult with Endocardial Fibroelastosis [PDF]
Carmela Tan +2 more
exaly +2 more sources

