Genetic insights into non-syndromic Tetralogy of Fallot

NJ Althali, KE Hentges - Frontiers in Physiology, 2022 - frontiersin.org
Congenital heart defects (CHD) include structural abnormalities of the heart or/and great
vessels that are present at birth. CHD affects around 1% of all newborns worldwide …

Whole exome sequencing reveals the major genetic contributors to nonsyndromic tetralogy of Fallot

DJ Page, MJ Miossec, SG Williams… - Circulation …, 2019 - Am Heart Assoc
Rationale: Familial recurrence studies provide strong evidence for a genetic component to
the predisposition to sporadic, nonsyndromic Tetralogy of Fallot (TOF), the most common …

The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases

RM Monaghan, DJ Page, P Ostergaard… - Cardiovascular …, 2021 - academic.oup.com
Vascular endothelial growth factor receptors (VEGFRs) are part of the evolutionarily
conserved VEGF signalling pathways that regulate the development and maintenance of the …

The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

JA Follit, JT San Agustin, F Xu, JA Jonassen… - PLoS …, 2008 - journals.plos.org
Eukaryotic cells often use proteins localized to the ciliary membrane to monitor the
extracellular environment. The mechanism by which proteins are sorted, specifically to this …

Assessment of diffuse ventricular myocardial fibrosis using native T1 in children with repaired tetralogy of Fallot

D Yim, E Riesenkampff… - Circulation …, 2017 - Am Heart Assoc
Background—Myocardial fibrosis is linked with adverse clinical outcomes in adults after
tetralogy of Fallot repair (rTOF). Native T1 times (T1) by cardiac magnetic resonance have …

Refining the assessment of pulmonary regurgitation in adults after tetralogy of Fallot repair: should we be measuring regurgitant fraction or regurgitant volume?

RM Wald, AN Redington, A Pereira… - European heart …, 2009 - academic.oup.com
Aims Pulmonary regurgitation (PR) is an important determinant of outcome after tetralogy of
Fallot (TOF) repair. The physiologic impact of PR on the right ventricle remains incompletely …

Fetal MRI detects early alterations of brain development in Tetralogy of Fallot

C Schellen, S Ernst, GM Gruber, E Mlczoch… - American journal of …, 2015 - Elsevier
Objective Prenatal imaging has identified alterations of brain growth in fetuses with
congenital heart disease. However, little is known about the timing of altered brain …

Right ventricular remodeling after pulmonary valve replacement: early gains, late losses

A Hallbergson, K Gauvreau, AJ Powell… - The Annals of thoracic …, 2015 - Elsevier
Background Although early results of pulmonary valve replacement (PVR) after tetralogy of
Fallot repair have been described, information about late postoperative ventricular size and …

Integrative metabolomics dictate distinctive signature profiles in patients with Tetralogy of Fallot

Y Li, M Tian, Z Zhou, J Tu, R Zhang, Y Huang… - Pediatric …, 2024 - nature.com
Abstract Background Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart
disease (CCHD) with multifactorial etiology. We aimed to investigate the metabolic profiles …

Systolic right ventricular function in pediatric and adolescent patients with tetralogy of Fallot: echocardiography versus magnetic resonance imaging

M Koestenberger, B Nagel, W Ravekes… - Journal of the American …, 2011 - Elsevier
OBJECTIVE: The tricuspid annular plane systolic excursion (TAPSE) as an
echocardiographic index to assess right ventricular (RV) systolic function has not been …