Treacher Collins Syndrome

Dobrilovic, Nikola; Fernández, Antonio B.; Lin, Albert; Singh, Arun K.

doi:10.1161/circulationaha.113.001588

Cited by 4 publications

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…TCOF1 is involved in mRNA formation in NCCs during embryogenesis, largely associated with NC depletions in pharyngeal arches 1 and 2 [69]. Treacher Collins is normally associated with craniofacial abnormalities, but the depletion of NCCs has also been indicated in producing human CHD phenotypes such as VSD, ASD, PDA [70]. Studies have found that haploinsufficiency of TCOF1 in mice results in a reduced number of migrating NCCs, leading to severe craniofacial defects [69].…”

Section: Treacher Collins Syndromementioning

confidence: 99%

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

Erhardt

Zheng

Zhao

et al. 2021

JCDD

View full text Add to dashboard Cite

The neural crest (NC) is a multipotent and temporarily migratory cell population stemming from the dorsal neural tube during vertebrate embryogenesis. Cardiac neural crest cells (NCCs), a specified subpopulation of the NC, are vital for normal cardiovascular development, as they significantly contribute to the pharyngeal arch arteries, the developing cardiac outflow tract (OFT), cardiac valves, and interventricular septum. Various signaling pathways are shown to orchestrate the proper migration, compaction, and differentiation of cardiac NCCs during cardiovascular development. Any loss or dysregulation of signaling pathways in cardiac NCCs can lead to abnormal cardiovascular development during embryogenesis, resulting in abnormalities categorized as congenital heart defects (CHDs). This review focuses on the contributions of cardiac NCCs to cardiovascular formation, discusses cardiac defects caused by a disruption of various regulatory factors, and summarizes the role of multiple signaling pathways during embryonic development. A better understanding of the cardiac NC and its vast regulatory network will provide a deeper insight into the mechanisms of the associated abnormalities, leading to potential therapeutic advancements.

show abstract

Section: Treacher Collins Syndromementioning

confidence: 99%

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

Erhardt

Zheng

Zhao

et al. 2021

JCDD

View full text Add to dashboard Cite

show abstract

Associated Systemic Health Conditions Associated with Treacher Collins Syndrome

Ricalde

Ahson

2022

Craniofacial Microsomia and Treacher Collins Syndrome

View full text Add to dashboard Cite

Aneurysmal dilatation of the aortic sinuses of Valsalva — beyond Marfan syndrome: a single centre experience and review of the literature

Caruana

Sheppard

2014

Front. Med.

View full text Add to dashboard Cite

Aneurysmal dilatation of the aortic sinuses of Valsalva has been most extensively documented in the setting of aortopathies, particularly Marfan syndrome. On the other hand, there is limited data in the literature about congenital sinus of Valsalva aneurysms outside this context. For the purpose of this review, we carried out a literature search on aneurysmal dilatation of the sinuses of Valsalva in Marfan syndrome, and compared this with congenital sinus of Valsalva aneurysms, also including data from a case series from our institution. In conclusion, there are differences in management of aortic dilatation in Marfan syndrome and congenital sinus of Valsalva aneurysms. Though less well-recognised, congenital aneurysms are often associated with significant morbidity and mortality and timely intervention is necessary.

show abstract

Treacher Collins Syndrome

Abstract: The online-only Data Supplement is available with this article at http://circ.ahajournals.org/lookup/suppl

Cited by 4 publications

References 4 publications

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

The Cardiac Neural Crest Cells in Heart Development and Congenital Heart Defects

Associated Systemic Health Conditions Associated with Treacher Collins Syndrome

Aneurysmal dilatation of the aortic sinuses of Valsalva — beyond Marfan syndrome: a single centre experience and review of the literature

Contact Info

Product

Resources

About