Genetics of congenital heart disease: the glass half empty

AC Fahed, BD Gelb, JG Seidman… - Circulation research, 2013 - Am Heart Assoc
Congenital heart disease (CHD) is the most common congenital anomaly in newborn
babies. Cardiac malformations have been produced in multiple experimental animal …

Atrial septal defects

T Geva, JD Martins, RM Wald - The Lancet, 2014 - thelancet.com
Atrial septal defects are the third most common type of congenital heart disease. Included in
this group of malformations are several types of atrial communications that allow shunting of …

[HTML][HTML] Single-cell resolution of temporal gene expression during heart development

DM DeLaughter, AG Bick, H Wakimoto, D McKean… - Developmental cell, 2016 - cell.com
Activation of complex molecular programs in specific cell lineages governs mammalian
heart development, from a primordial linear tube to a four-chamber organ. To characterize …

Hypoplastic left heart syndrome: current considerations and expectations

JA Feinstein, DW Benson, AM Dubin, MS Cohen… - Journal of the American …, 2012 - jacc.org
In the recent era, no congenital heart defect has undergone a more dramatic change in
diagnostic approach, management, and outcomes than hypoplastic left heart syndrome …

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee …

ME Pierpont, CT Basson, DW Benson Jr, BD Gelb… - Circulation, 2007 - Am Heart Assoc
The intent of this review is to provide the clinician with a summary of what is currently known
about the contribution of genetics to the origin of congenital heart disease. Techniques are …

[HTML][HTML] Regulation of fetal gene expression in heart failure

E Dirkx, PA da Costa Martins, LJ De Windt - Biochimica et Biophysica Acta …, 2013 - Elsevier
During the processes leading to adverse cardiac remodeling and heart failure,
cardiomyocytes react to neurohumoral stimuli and biomechanical stress by activating …

Transcription factor pathways and congenital heart disease

DJ McCulley, BL Black - Current topics in developmental biology, 2012 - Elsevier
Congenital heart disease is a major cause of morbidity and mortality throughout life.
Mutations in numerous transcription factors have been identified in patients and families with …

[HTML][HTML] An Nkx2-5/Bmp2/Smad1 negative feedback loop controls heart progenitor specification and proliferation

OWJ Prall, MK Menon, MJ Solloway, Y Watanabe… - Cell, 2007 - cell.com
During heart development the second heart field (SHF) provides progenitor cells for most
cardiomyocytes and expresses the homeodomain factor Nkx2-5. We now show that …

[HTML][HTML] Nkx2-5 pathways and congenital heart disease: loss of ventricular myocyte lineage specification leads to progressive cardiomyopathy and complete heart …

M Pashmforoush, JT Lu, H Chen, T St Amand, R Kondo… - Cell, 2004 - cell.com
Human mutations in Nkx2-5 lead to progressive cardiomyopathy and conduction defects via
unknown mechanisms. To define these pathways, we generated mice with a ventricular …

[HTML][HTML] Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and …

EP Kirk, M Sunde, MW Costa, SA Rankin… - The American Journal of …, 2007 - cell.com
The T-box family transcription factor gene TBX20 acts in a conserved regulatory network,
guiding heart formation and patterning in diverse species. Mouse Tbx20 is expressed in …