Congenital heart defects in Williams syndrome [PDF]
The Turkish Journal of Pediatrics, 2017 Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges.
openaire +3 more sources
Frontiers in Cardiovascular MedicineWe present a case of a 22-month-old boy with a hypokinetic and thin-walled aneurysm of the left ventricle apex. The lesion was diagnosed during routine echocardiography examination in the course of MIS-C, and its occurrence due to MIS-C is plausible ...
Dominika Mystkowska +6 more
doaj +1 more source
Self-Reported Health Experiences of Children Living with Congenital Heart Defects: Including Patient-Reported Outcomes in a National Cohort Study. [PDF]
PLoS ONE, 2016 BACKGROUND:Understanding children's views about living with congenital heart defects (CHDs) is fundamental to supporting their successful participation in daily life, school and peer relationships.
Rachel Louise Knowles +6 more
doaj +1 more source
Learning normal appearance for fetal anomaly screening: Application to the unsupervised detection of Hypoplastic Left Heart Syndrome [PDF]
arXiv, 2020 Congenital heart disease is considered as one the most common groups of congenital malformations which affects $6-11$ per $1000$ newborns. In this work, an automated framework for detection of cardiac anomalies during ultrasound screening is proposed and evaluated on the example of Hypoplastic Left Heart Syndrome (HLHS), a sub-category of congenital ...
arxiv
Epidemiology of paediatric chronic heart failure in Germany—A population‐based analysis
ESC Heart FailureAims Paediatric chronic heart failure (CHF) is associated with significant morbidity. The aim of this study was to describe paediatric CHF epidemiology in Germany.
Alexej Bobrowski +6 more
doaj +1 more source
Modelling survival and mortality risk to 15 years of age for a national cohort of children with serious congenital heart defects diagnosed in infancy. [PDF]
PLoS ONE, 2014 Congenital heart defects (CHDs) are a significant cause of death in infancy. Although contemporary management ensures that 80% of affected children reach adulthood, post-infant mortality and factors associated with death during childhood are not well ...
Rachel L Knowles +6 more
doaj +1 more source
Protein Losing Enteropathy following Fontan Palliation in the Single Ventricle Population [PDF]
, 2014 Congenital heart defects requiring single ventricle palliation are a rare but life-threatening occurrence. There are multiple defects resulting in single ventricle physiology including defects in which the right or left ventricle within the heart is ...
Dunkleberger, Alaina
core +1 more source
FETAL CARDIAC STRUCTURE DETECTION FROM ULTRASOUND SEQUENCES [PDF]
, 2020 Fetal heart abnormalities are the most common congenital anomalies and are also the leading cause of infant mortality related to birth defects. More than one-third of all malformations found after delivery are congenital heart defects.
JACOB, RESHMI MARIAM REJI +2 more
core +1 more source
A Genome-Wide association Study of Obstructive Heart Defects among Participants in the National Birth Defects Prevention Study [PDF]
, 2022 Obstructive heart defects (OHDs) share common structural lesions in arteries and cardiac valves, accounting for ~25% of all congenital heart defects. OHDs are highly heritable, resulting from interplay among maternal exposures, genetic susceptibilities ...
Bhattacharyya, Sudeepa +14 more
core +1 more source
Key Factors of Adherence in Cardiological Follow-Up of Adults with Congenital Heart Disease
Journal of Cardiovascular Development and DiseaseApproximately 50% of adults with congenital heart defects (ACHD) lack specialised CHD care, increasing the risk of preventable complications and mortality.
Anna-Lena Ehmann +7 more
doaj +1 more source