Results 61 to 70 of about 2,024 (185)

Natural history of valve disease in patients with mucopolysaccharidosis II and the impact of enzyme replacement therapy

open access: yesJournal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Mucopolysaccharidosis II (MPS II, Hunter syndrome) is a rare, X‐linked lysosomal storage disease caused by reduced activity of iduronate‐2‐sulfatase (I2S), with subsequent cellular accumulation of the glycosaminoglycans (GAGs), heparan sulfate, and dermatan sulfate (DS).
Christoph Kampmann   +8 more
wiley   +1 more source

Transposition of the Great Arteries With Intact Ventricular Septum and Fetal‐Onset Dilated Cardiomyopathy in a Neonate With a Homozygous NEXN Variant

open access: yesCase Reports in Pediatrics, Volume 2025, Issue 1, 2025.
NEXN variants have previously been described as a cause of both pediatric‐ and adult‐onset dilated cardiomyopathy but are not known to be associated with complex congenital heart disease. We report a case of an antenatal diagnosis of transposition of the great arteries with intact ventricular septum and fetal‐onset dilated cardiomyopathy in a neonate ...
Daniel Geer   +6 more
wiley   +1 more source

Endocardial fibroelastosis associated with maternal anti-Ro and anti-La antibodies in the absence of atrioventricular block [PDF]

open access: yes, 2002
ObjectivesThis study was designed to document the association of endocardial fibroelastosis (EFE) and maternal autoantibodies.BackgroundNeonatal lupus erythematosus is associated with the transplacental passage of maternal anti-Ro and anti-La antibodies,
Brendan, J   +17 more
core   +1 more source

Cardiac fibroelastosis associated with thromboembolism and paresis in a cat - Case report

open access: yesBrazilian Journal of Veterinary Pathology, 2019
A two-year-old, male, non-castrated cat was referred to the veterinary hospital with a three-month history of paresis of the pelvic limbs. Clinical examination revealed a discreet muffling of cardiac sounds and the presence of a degree III/VI ...
Thaynara P. Carvalho   +8 more
doaj   +1 more source

Impact of early detection and steroid treatment on fetal ventricular heart rate and pacemaker implantation in anti‐Ro/SSA positive congenital heart block

open access: yesActa Obstetricia et Gynecologica Scandinavica, Volume 103, Issue 12, Page 2433-2441, December 2024.
Ventricular heart rate (HR) in fetal immune‐mediated third‐degree atrioventricular block (AVB III) is higher at diagnosis than later in gestation and has also been shown to decrease as a function of gestation. Our data confirms that AVB III cases detected earlier in gestation have a higher HR, and suggests that this higher HR can be successfully ...
Sven‐Erik Sonesson   +4 more
wiley   +1 more source

Neonate Aortic Stenosis: Importance of Myocardial Perfusion in Prognosis

open access: yesArquivos Brasileiros de Cardiologia, 2002
OBJECTIVE: To analyze our experience with percutaneous aortic balloon valvuloplasty in newborn infants with aortic stenosis, emphasizing the extraordinary importance of myocardial perfusion.METHODS: Over a 10-year-period, 21 neonates underwent ...
Marco Aurélio Santos   +1 more
doaj   +1 more source

Fetal aortic valvuloplasty: first report of two cases from Saudi Arabia

open access: yesJournal of Cardiothoracic Surgery, 2020
Background Fetal aortic stenosis may progress to hypoplastic left heart syndrome (HLHS), which carries a poor prognosis. We report two infants with fetal aortic stenosis successfully treated with fetal aortic valvuloplasty (FAV) using balloon dilatation.
Merna Atiyah   +8 more
doaj   +1 more source

Aortic, mitral and tricuspid valvular dysplasia in a 7‐month‐old colt

open access: yesEquine Veterinary Education, Volume 36, Issue 11, Page e288-e294, November 2024.
Summary A 7‐month‐old Warmblood cross colt was presented for the assessment of a laceration of the right hind pastern of 4‐days duration. At presentation, the colt was in poor body condition and had a rough, dull coat. Cardiac auscultation revealed a grade 5/6 pansystolic murmur on the left side and grade 4/6 continuous murmur on the left and right ...
Jillian Bell   +3 more
wiley   +1 more source

Postnatal outcome following fetal aortic valvuloplasty for critical aortic stenosis

open access: yesUltrasound in Obstetrics &Gynecology, Volume 64, Issue 3, Page 339-347, September 2024.
ABSTRACT Objective To report our experience of fetal aortic valvuloplasty (FAV) for critical aortic stenosis (AS), with a focus on the postnatal evolution of the patients. Methods This was a retrospective study including all fetuses with critical AS which underwent FAV in a single center between January 2011 and June 2022.
R. Corroenne   +14 more
wiley   +1 more source

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