Recurrent atrial fibrillation and stroke in a young adult with congenital heart defects: A case report. [PDF]
Altell K +8 more
europepmc +1 more source
Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis
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]
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
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
Clinical profile and hospital outcomes of children with Down syndrome diagnosed with congenital heart disease in a developing country: A retrospective study. [PDF]
Kalezi ZE +6 more
europepmc +1 more source
Diagnostic Yield of Post‐Mortem Fetal Micro‐CT for Thoracic Abnormalities
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]
Hansen S +9 more
europepmc +1 more source
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
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
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
Reply: Reconsidering Follow-Up Recommendations in Repaired Atrial Septal Defects: Aligning Case-Based Lessons With Guideline Statements. [PDF]
Danylenko O, Babu-Narayan S, Li W.
europepmc +1 more source

