Results 51 to 60 of about 37,279 (203)

Nebulette Mutations Are Associated With Dilated Cardiomyopathy and Endocardial Fibroelastosis [PDF]

, 2010
ObjectivesFour variants (K60N, Q128R, G202R, and A592E) in the nebulette gene were identified in patients with dilated cardiomyopathy (DCM) and endocardial fibroelastosis.
Carole L. Moncman, Purevjav, Enkhsaikhan, Varela, Jaquelin, Enkhsaikhan Purevjav, Siegfried Labeit, Kearney, Debra L., Boriek, Aladin M., Towbin, Jeffrey A., Hua Li, Takuro Arimura, McKenna, William, Murphy, Ross T., Aladin M. Boriek, Akinori Kimura, Vatta, Matteo, William McKenna, Li, Hua, Bowles, Neil E., Morgado, Micaela, Jeffrey A. Towbin, Debra L. Kearney, Arimura, Takuro, Micaela Morgado, Labeit, Siegfried, Neil E. Bowles, Ross T. Murphy, Taylor, Michael D., Moncman, Carole L., Jaquelin Varela, Michael D. Taylor, Kimura, Akinori, Matteo Vatta   +31 more
core   +1 more source

Cardiac manifestations in a Chinese cohort of fetuses from mothers with anti-Ro and anti-La antibodies

Frontiers in Pediatrics, 2022
ObjectivesTo analyze the clinical characteristics, echocardiographic features, and prognosis of fetuses based on three groups of cardiac manifestations associated with maternal anti-Ro and anti-La antibodies in China.
Xin Wang, Xiao-wei Liu, Ling Han, Meng-tao Li, Jiu-liang Zhao, Lin Sun, Jian-cheng Han, Xiao-feng Zeng, Xin-ping Tian, Ying Zhao, Yi-hua He   +10 more
doaj   +1 more source

The Left Ventricular Myocardium in Hypoplastic Left Heart Syndrome

Journal of Cardiovascular Development and Disease, 2022
Hypoplastic left heart syndrome (HLHS) is a collective term applied to severe congenital cardiac malformations, characterised by a combination of abnormalities mainly affecting the left ventricle, associated valves, and ascending aorta.
Bill Chaudhry, Ahlam Alqahtani, Lorraine Eley, Louise Coats, Corina Moldovan, Srinivas R. Annavarapu, Deborah J. Henderson   +6 more
doaj   +1 more source

MUMPS MYOCARDITIS AS A CAUSE OF NEONATAL CARDIOGENIC SHOCK [PDF]

Acta Medica Iranica, 2008
The mothers may be infected during pregnancy with infectious agents. Mumps induced myocarditis, especially endocardial fibroelastosis, was previously a common disease of infants but is rare now.
M. Kadivar, M. Sadighi, A. Kiani, A. Kocharian   +3 more
doaj   +1 more source

Endocardial Fibrosis Elastosis [PDF]

JACC: Basic to Translational Science
Marlin Touma, MD, PhD
doaj   +2 more sources

Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann–Steiner syndrome

Molecular Genetics & Genomic Medicine, 2021
Background Wiedemann–Steiner syndrome (WSS) is an autosomal dominant disorder characterized by short stature, hypertrichosis, intellectual disability, developmental delay, along with facial dysmorphism.
Sukun Luo, Bo Bi, Wenqian Zhang, Rui Zhou, Wei Chen, Peiwei Zhao, Yufeng Huang, Li Yuan, Xuelian He   +8 more
doaj   +1 more source

Severe dilated cardiomyopathy as an unusual clinical presentation in an infant with sialidosis type II

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, Luc Bruyndonckx, André B. P. Van Kuilenburg, François Eyskens   +3 more
doaj   +1 more source

Management of Congenital Complete Atrioventricular Block in Preterm Neonates With Novel Pacing Method

Pacing and Clinical Electrophysiology, EarlyView.
ABSTRACT Congenital complete atrioventricular block (CCAVB) is a rare autoimmune mediated disorder with a guarded prognosis, particularly when associated with extreme prematurity and severe bradycardia. Recent advances in neonatal care for extremely premature infants with delivery at level IV neonatal intensive care unit and novel pediatric pacing ...
Anusha Bai Kalithkar, Rodrigo Ruano, Leonardo Mulinari, Steven Fishberger, Sethuraman Swaminathan, Ileana Torres‐Burgos   +5 more
wiley   +1 more source

Ross-Konno and Endocardial Fibroelastosis Resection After Hybrid Stage I Palliation in Infancy: Successful Staged Left-Ventricular Rehabilitation and Conversion to Biventricular Circulation After Fetal Diagnosis of Aortic Stenosis [PDF]

, 2010
We report a patient who presented during fetal life with severe aortic stenosis, left-ventricular dysfunction, and endocardial fibroelastosis (evolving hypoplastic left heart syndrome).
Moon-Grady, Anita J., Anita J. Moon-Grady, Azakie, Anthony, Phillip Moore, Moore, Phillip, Anthony Azakie   +5 more
core   +1 more source

Mitral regurgitation and decompensated heart failure in a young pregnant pony mare: An aetiological challenge

Equine Veterinary Education, Volume 38, Issue 10, Page e676-e685, October 2026.
Summary A 4‐year‐old, 6‐month pregnant, Welsh pony mare presented with severe acute clinical signs including depression, anorexia, pale mucous membranes, tachycardia with a grade 4/6 holosystolic murmur and moderate expiratory dyspnoea with diffuse wheezes. There was no evidence of placentitis or fetal distress.
M. F. David, L. Cannon, A. Tortereau, A. Thomas‐Cancian, I. Desjardins   +4 more
wiley   +1 more source