Results 31 to 40 of about 18,668 (219)

Mechanical tricuspid valve replacement in hypoplastic left heart syndrome: An institutional experienceCentral MessagePerspective

open access: yesJTCVS Open, 2022
Objective: Atrioventricular valvar regurgitation in patients with single ventricles is associated with worse outcomes. Valve repair or replacement has been undertaken in an attempt to reduce mortality and morbidity.
Mehar Hoda, MD   +3 more
doaj   +1 more source

Medical Therapies for Heart Failure in Hypoplastic Left Heart Syndrome

open access: yesJournal of Cardiovascular Development and Disease, 2022
Significant surgical and medical advances over the past several decades have resulted in a growing number of infants and children surviving with hypoplastic left heart syndrome (HLHS) and other congenital heart defects associated with a single systemic ...
Angela N. Baybayon-Grandgeorge   +3 more
doaj   +1 more source

Creation of high position fetal balloon atrial septoplasty for hypoplastic left heart syndrome and highly restrictive atrial septum: A case report and literature review

open access: yesJournal of Interventional Medicine, 2020
Background: Fetal balloon atrial septoplasty (BAS) is performed through the restrictive foramen ovale in fetal cases with established hypoplastic left heart syndrome (HLHS) and an intact or highly restrictive atrial septum (RAS).
Ai Zhang   +4 more
doaj   +1 more source

Pleural and mediastinal effusions after the extracardiac total cavopulmonary connection: Risk factors and impact on outcome

open access: yesFrontiers in Cardiovascular Medicine, 2022
BackgroundThis study investigated the volume and duration of pleural and mediastinal effusions following extracardiac total cavopulmonary connection, as well as preoperative risk factors and their impact on outcome.Materials and methodsA total of 210 ...
Paul Philipp Heinisch   +17 more
doaj   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Autologous umbilical cord blood mononuclear cell therapy for hypoplastic left heart syndrome: a nonrandomized control trial of the efficacy and safety of intramyocardial injections

open access: yesStem Cell Research & Therapy
Background Preliminary phase I clinical trial results revealed that autologous umbilical cord blood-derived mononuclear cells (UCB-MNCs) preserved right ventricular cardiac function.
Carlos Gallego-Navarro   +10 more
doaj   +1 more source

The Potential Role of Regenerative Medicine on the Future Management of Hypoplastic Left Heart Syndrome

open access: yes, 2022
The development and translation of regenerative medicine approaches for the treatment of hypoplastic left heart syndrome (HLHS) provides a promising alternative to the current standard of care.
Christopher K. Breuer   +2 more
core   +1 more source

Streamlining Diagnosis of Bardet–Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Considerable advances have been made in our understanding of Bardet–Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence‐based, and consensus‐driven process, a multidisciplinary group of international experts and ...
Jeremy J. Pomeroy   +16 more
wiley   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

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