The changing face of Turner syndrome

CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Down syndrome and congenital heart disease: perioperative planning and management

DR Delany, SS Gaydos, DA Romeo… - Journal of Congenital …, 2021 - Springer
Approximately 50% of newborns with Down syndrome have congenital heart disease. Non-
cardiac comorbidities may also be present. Many of the principles and strategies of …

2-year outcomes after complete or staged procedure for tetralogy of Fallot in neonates

JJ Savla, JA Faerber, YSV Huang, T Zaoutis… - Journal of the American …, 2019 - jacc.org
Background: There is ongoing debate about the best strategy to treat patients with tetralogy
of Fallot who are symptomatic in the neonatal period. Objectives: The aim of this study was …

Refining the Society of Thoracic Surgeons Congenital Heart Surgery Database mortality risk model with enhanced risk adjustment for chromosomal abnormalities …

JP Jacobs, SM O'Brien, KD Hill, SR Kumar… - The Annals of thoracic …, 2019 - Elsevier
Background The Society of Thoracic Surgeons Congenital Heart Surgery Database Mortality
Risk Model adjusts not only for procedure and age group pairings but also for additional …

Genetic basis of human congenital heart disease

SN Nees, WK Chung - Cold Spring Harbor perspectives …, 2020 - cshperspectives.cshlp.org
Congenital heart disease (CHD) is the most common major congenital anomaly with an
incidence of∼ 1% of live births and is a significant cause of birth defect–related mortality …

Organ abnormalities caused by Turner syndrome

SH Yoon, GY Kim, GT Choi, JT Do - Cells, 2023 - mdpi.com
Turner syndrome (TS), a genetic disorder due to incomplete dosage compensation of X-
linked genes, affects multiple organ systems, leading to hypogonadotropic hypogonadism …

The genetics of isolated congenital heart disease

SN Nees, WK Chung - … Journal of Medical Genetics Part C …, 2020 - Wiley Online Library
The genetic mechanisms underlying congenital heart disease (CHD) are complex and
remain incompletely understood. The majority of patients with CHD have an isolated heart …

Lesion-specific congenital heart disease mortality trends in children: 1999 to 2017

MM Lynn, JL Salemi, SP Kostelyna, SA Morris… - …, 2022 - publications.aap.org
OBJECTIVE Congenital heart disease (CHD) is a leading cause of premature death in
infants and children. Currently limited data are available regarding lesion specific mortality …

Differences in morbidity and mortality in Down syndrome are related to the type of congenital heart defect

A Baban, N Olivini, N Cantarutti, F Calì… - American Journal of …, 2020 - Wiley Online Library
Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart
defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as …

Congenital heart defects in CHARGE: The molecular role of CHD7 and effects on cardiac phenotype and clinical outcomes

JK Meisner, DM Martin - … Journal of Medical Genetics Part C …, 2020 - Wiley Online Library
CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the
eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and …