Results 161 to 170 of about 173,062 (307)

Recurrent atrial fibrillation and stroke in a young adult with congenital heart defects: A case report. [PDF]

open access: yesMedicine (Baltimore)
Altell K   +8 more
europepmc   +1 more source

Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out
Connor Hartzell   +6 more
wiley   +1 more source

Chances of Employment in a Population of Women and Men after Surgery of Congenital Heart Disease: Gender-Specific Comparisons between Patients and the General Population [PDF]

open access: yes
It was examined whether women and men (17-45 years) with operated congenital heart disease (CHD) differ with respect to chances of employment. Patients were compared with the general population.
Armin Wessel   +3 more
core  

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa   +7 more
wiley   +1 more source

Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective This study aims to identify the imaging findings specifically for thoracic anomalies in 1200 Micro‐CT cases, independent of whether the abnormality contributed to the main diagnosis or cause of death. Method We analyzed 1200 Micro‐CT scans in an unselected, consecutive cohort between 2017 and 2024 to identify thoracic anomalies ...
Ian C. Simcock   +5 more
wiley   +1 more source

Neurodevelopmental outcomes in preschool children with congenital heart defects: A case-control study using Ages & Stages Questionnaire. [PDF]

open access: yesPLoS One
Hansen S   +9 more
europepmc   +1 more source

Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani   +17 more
wiley   +1 more source

PROBLEMS OF SELECTING THERAPY FOR HEART FAILURE IN A NEWBORN

open access: yesМать и дитя в Кузбассе
Congenital heart defects are still a serious medical and social problem. The incidence of congenital heart defects varies widely and ranges from 2.4% to 14.15%.
Наталья Николаевна Лылова   +7 more
doaj  

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