Results 171 to 180 of about 363,528 (359)

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects [PDF]

, 2017
Background Mutations in the myosin heavy chain 7 (MYH7) gene commonly cause cardiomyopathy but are less frequently associated with congenital heart defects. Methods In this study, we describe a mutation in the MYH7 gene, c. 5754C > G; p.
Barge-Schaapveld, D, Bokenkamp, R, Bootsma, M, Boven, LA, Breuning, MH, Deprez, RHL, Herkert, JC, Hiemstra, YL, Jongbloed, JDH, Mil, Annemieke, Ruivenkamp, C, Spaendonck-Zwarts, KY, ten Broeke, SW, van der Linde, IHM, van der Zwaag, PA, van Slegtenhorst, MA, Veldkamp, RF, Waning, Jaap   +17 more
core   +3 more sources

Prenatal Alcohol Exposure and Congenital Heart Defects: A Meta-Analysis

PLoS ONE, 2015
Background There are still inconsistent conclusions about the association of prenatal alcohol drinking with congenital heart defects (CHDs). We conducted this meta-analysis to investigate the association between prenatal alcohol exposure and the risk of ...
Jiaomei Yang, Hui-qi Qiu, P. Qu, Ruo Zhang, L. Zeng, Hong Yan   +5 more
semanticscholar   +1 more source

Features of the structure of heart [PDF]

, 2017
Introduction. Knowledge of century features of a structure of heart of newborns is necessary for diagnostics and treatment of defects of heart, in connection with the high level of birth rate of children with defects of heart.
Moskalenko, E.A.
core  

Pediatric congenital heart diseases: Patterns of presentation to the emergency department of a tertiary care hospital [PDF]

, 2020
Objective: To observe presentation of Pediatric congenital cardiac defects to the Emergency Department (ED) of a tertiary care hospital in Pakistan.Methods: This is a retrospective chart review of patients under the age of 16 years with congenital ...
Akhtar, Saleem, Bano, Surraiya, Khan, Uzma R.   +2 more
core   +1 more source

Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

Seminars in Perinatology, 2015
In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely.
R. Olney, E. Ailes, M. Sontag
semanticscholar   +1 more source

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy

Scientific Reports
Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes coding for structural sarcomeric proteins, is the most common inherited heart disease.
Sarala Raj Murthi, Andreas Petry, Bachuki Shashikadze, Jan B. Stöckl, Manuel Schmid, Gianluca Santamaria, Karin Klingel, Damir Kračun, Xinpei Chen, Sabine Bauer, Joachim P. Schmitt, Florian Flenkenthaler, Josh Gorham, Christopher N. Toepfer, David Potěšil, Pavel Hruška, Zbyněk Zdráhal, Zsuzsanna Mayer, Mathieu Klop, Luisa Lehmann, Yishi Qin, Laura Papanakli, Nadine Spielmann, Alessandra Moretti, Thomas Fröhlich, Peter Ewert, Stefan Holdenrieder, Jonathan G. Seidman, Christine E. Seidman, Agnes Görlach, Cordula M. Wolf   +30 more
doaj   +1 more source

Epidemiology of congenital heart defects in France from 2013 to 2022 using the PMSI-MCO (French Medical Information System Program in Medicine, Surgery, and Obstetrics) database.

PLoS ONE
BackgroundCongenital heart defects are common and occur in approximately 0.9% of births. In France, the registries cover approximately 20% of the population but not the entirety of France; therefore, we aimed to update the incidence data for congenital ...
Gurvan Bourdon, Xavier Lenne, François Godart, Laurent Storme, Didier Theis, Damien Subtil, Amelie Bruandet, Thameur Rakza   +7 more
doaj   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Classification of Short Segment Pediatric Heart Sounds Based on a Transformer-Based Convolutional Neural Network [PDF]

arXiv
Congenital anomalies arising as a result of a defect in the structure of the heart and great vessels are known as congenital heart diseases or CHDs. A PCG can provide essential details about the mechanical conduction system of the heart and point out specific patterns linked to different kinds of CHD.
arxiv