Results 61 to 70 of about 72,557 (256)

A de novo mutation in NKX2.5 associated with atrial septal defects, ventricular noncompaction, syncope and sudden death

open access: yesClinica chimica acta; international journal of clinical chemistry, 2010
Background Mutations in transcription factor NKX2.5 cause congenital heart disease (CHD). We identified a CHD family with atrial septal defects (ASDs), atrioventricular block, ventricular noncompaction, syncope and sudden death.
Ouyang Ping   +11 more
semanticscholar   +1 more source

How to facilitate ultrasound examination of the fetal heart: the 5‐4‐3‐2‐1 method

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT We propose a new standardized, systematic method of fetal cardiac screening, the step‐by‐step ‘5‐4‐3‐2‐1’ method. This method is based on understanding the cardiac structures through a process of navigating between the different recommended views during an abdominothoracic sweep, following a user‐friendly checklist to identify the main ...
M. Levy, B. Stos
wiley   +1 more source

Risk of minor congenital heart defect in infants conceived via assisted reproductive technology: cohort study from the Copenhagen Baby Heart Study

open access: yesUltrasound in Obstetrics &Gynecology, EarlyView.
ABSTRACT Objective Infertility affects up to 20% of couples in high‐income countries, which has led to an increased use of assisted reproductive technology (ART). While previous studies have linked ART to a higher risk of major congenital heart defects (CHD), less is known about the associated risk of minor CHD.
F. Kyhl‐Svart   +16 more
wiley   +1 more source

Three-dimensional echocardiographic assessment of atrial septal defects

open access: yes, 2015
Echocardiography provides a useful tool in the diagnosis of many congenital heart diseases, including atrial septal defects, and aids in further delineating treatment options.
Charles German, Navin C Nanda
core   +1 more source

Atrial Septal Defect [PDF]

open access: yes, 2012
Atrial Septal Defects (ASDs) are relatively common both in children and adults. Recent reports of increase in the prevalence of ASD may be related use of color Doppler echocardiography. The etiology of the ASD is largely unknown.

core   +1 more source

A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects

open access: yesJournal of Medical Genetics, 2009
Background Ostium secundum atrial septal defects (ASDII) account for approximately 10% of all congenital heart defects (CHD), and mutations in cardiac transcription factors, including TBX20, were identified as an underlying cause for ASDII. However, very
M. Posch   +16 more
semanticscholar   +1 more source

Comprehensive Assessment of the KDM2B‐Associated Neurodevelopmental Disorder and the 12q24.31 Microdeletion Syndrome

open access: yesClinical Genetics, EarlyView.
We set out to characterize genotype–phenotype correlations in the recently delineated KDM2B‐associated neurodevelopmental disorder. We observe a highly penetrant CxxC domain‐related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss‐of‐function ...
Amber S. E. van Oirsouw   +30 more
wiley   +1 more source

Mitral regurgitation and decompensated heart failure in a young pregnant pony mare: An aetiological challenge

open access: yesEquine Veterinary Education, EarlyView.
Summary A 4‐year‐old, 6‐month pregnant, Welsh pony mare presented with severe acute clinical signs including depression, anorexia, pale mucous membranes, tachycardia with a grade 4/6 holosystolic murmur and moderate expiratory dyspnoea with diffuse wheezes. There was no evidence of placentitis or fetal distress.
M. F. David   +4 more
wiley   +1 more source

Longest survivor of pulmonary atresia with ventricular septal defect without surgical intervention

open access: yes
ESC Heart Failure, Volume 12, Issue 2, Page 1499-1507, April 2025.
Sang Zhou   +5 more
wiley   +1 more source

Chd4 and ThPOK cooperate to preserve structural and electrophysiological integrity of the adult heart through Sprr1a repression

open access: yesThe FEBS Journal, EarlyView.
Chd4/NuRD and ThPOK cooperate to maintain transcriptional repression and nuclear organization in adult cardiomyocytes. Chd4 loss reduces miR‐150‐5p, relieving repression of Sprr1a, while ThPOK loss further enhances Sprr1a activation, possibly through altered chromatin–lamina interactions.
Fadoua El Abdellaoui‐Soussi   +12 more
wiley   +1 more source

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