Diagnosis of Neural Crest Cardiovascular Defects Assists the Clinician in Recognizing Potentially Associated Life-Threatening Problems

1998 ◽  
Vol 19 (2) ◽  
pp. 164-164
Author(s):  
Linda Leatherbury
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects ◽  
Life Threatening

scholarly journals Trigenic neural crest-restricted Smad7 over-expression results in congenital craniofacial and cardiovascular defects

2010 ◽  
Vol 344 (1) ◽  
pp. 233-247 ◽  
Author(s):  
Sunyong Tang ◽  
Paige Snider ◽  
Antony B. Firulli ◽  
Simon J. Conway
Keyword(s):  
Neural Crest ◽  
Over Expression ◽  
Cardiovascular Defects

scholarly journals Targeted disruption of semaphorin 3C leads to persistent truncus arteriosus and aortic arch interruption

Development ◽  
2001 ◽  
Vol 128 (16) ◽  
pp. 3061-3070 ◽  
Author(s):  
Leonard Feiner ◽  
Andrea L. Webber ◽  
Christopher B. Brown ◽  
Min Min Lu ◽  
Li Jia ◽  
...  
Keyword(s):  
Neural Crest ◽  
Aortic Arch ◽  
Heart Defects ◽  
Outflow Tract ◽  
Targeted Mutagenesis ◽  
Mutant Mice ◽  
Persistent Truncus Arteriosus ◽  
Cardiovascular Defects ◽  
Cardiac Outflow

Semaphorin 3C is a secreted member of the semaphorin gene family. To investigate its function in vivo, we have disrupted the semaphorin 3Clocus in mice by targeted mutagenesis. semaphorin 3C mutant mice die within hours after birth from congenital cardiovascular defects consisting of interruption of the aortic arch and improper septation of the cardiac outflow tract. This phenotype is similar to that reported following ablation of the cardiac neural crest in chick embryos and resembles congenital heart defects seen in humans. Semaphorin 3C is expressed in the cardiac outflow tract as neural crest cells migrate into it. Their entry is disrupted in semaphorin 3C mutant mice. These data suggest that semaphorin 3C promotes crest cell migration into the proximal cardiac outflow tract.

scholarly journals Zebrafish Models in Therapeutic Research of Cardiac Conduction Disease

2021 ◽  
Vol 9 ◽  
Author(s):  
Rui Gao ◽  
Jie Ren
Keyword(s):  
Molecular Mechanisms ◽  
Atrioventricular Node ◽  
Conduction System ◽  
Cardiac Conduction ◽  
External Fertilization ◽  
Evolutionarily Conserved ◽  
Cardiovascular Defects ◽  
Vertebrate Model ◽  
Life Threatening ◽  
Therapeutic Research

Malfunction in the cardiac conduction system (CCS) due to congenital anomalies or diseases can cause cardiac conduction disease (CCD), which results in disturbances in cardiac rhythm, leading to syncope and even sudden cardiac death. Insights into development of the CCS components, including pacemaker cardiomyocytes (CMs), atrioventricular node (AVN) and the ventricular conduction system (VCS), can shed light on the pathological and molecular mechanisms underlying CCD, provide approaches for generating human pluripotent stem cell (hPSC)-derived CCS cells, and thus improve therapeutic treatment for such a potentially life-threatening disorder of the heart. However, the cellular and molecular mechanisms controlling CCS development remain elusive. The zebrafish has become a valuable vertebrate model to investigate early development of CCS components because of its unique features such as external fertilization, embryonic optical transparency and the ability to survive even with severe cardiovascular defects during development. In this review, we highlight how the zebrafish has been utilized to dissect the cellular and molecular mechanisms of CCS development, and how the evolutionarily conserved developmental mechanisms discovered in zebrafish could be applied to directing the creation of hPSC-derived CCS cells, therefore providing potential therapeutic strategies that may contribute to better treatment for CCD patients.

Abnormalities in lymphocyte populations in infants with neural crest cardiovascular defects

1996 ◽  
Vol 17 (3) ◽  
pp. 143-149 ◽  
Author(s):  
D. K. Rhoden ◽  
L. Leatherbury ◽  
S. Helman ◽  
M. Gaffney ◽  
W. B. Strong ◽  
...  
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects ◽  
Lymphocyte Populations

The bridging bronchus: A comprehensive review of a rare, potentially life‐threatening congenital airway anomaly associated with cardiovascular defects

2019 ◽  
Vol 54 (12) ◽  
pp. 1895-1904
Author(s):  
Brandon M. Henry ◽  
Isaac Cheruiyot ◽  
Linda M. Wong ◽  
Kerri Keet ◽  
Victor Mutua ◽  
...  
Keyword(s):  
Comprehensive Review ◽  
Cardiovascular Defects ◽  
Bridging Bronchus ◽  
Life Threatening ◽  
Airway Anomaly

Temporal–spatial ablation of neural crest in the mouse results in cardiovascular defects

2007 ◽  
Vol 237 (1) ◽  
pp. 153-162 ◽  
Author(s):  
Diego Porras ◽  
Christopher B. Brown
Keyword(s):  
Neural Crest ◽  
Cardiovascular Defects

scholarly journals Msx1 haploinsufficiency modifies the Pax9-deficient cardiovascular phenotype

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Ramada R. Khasawneh ◽  
Ralf Kist ◽  
Rachel Queen ◽  
Rafiqul Hussain ◽  
Jonathan Coxhead ◽  
...  
Keyword(s):  
Neural Crest ◽  
Aortic Arch ◽  
Thyroid Cartilage ◽  
Neural Crest Cell ◽  
Pharyngeal Arch ◽  
Palate Development ◽  
The Third ◽  
Pharyngeal Endoderm ◽  
Cardiovascular Defects ◽  
Crest Cell

Abstract Background Successful embryogenesis relies on the coordinated interaction between genes and tissues. The transcription factors Pax9 and Msx1 genetically interact during mouse craniofacial morphogenesis, and mice deficient for either gene display abnormal tooth and palate development. Pax9 is expressed specifically in the pharyngeal endoderm at mid-embryogenesis, and mice deficient for Pax9 on a C57Bl/6 genetic background also have cardiovascular defects affecting the outflow tract and aortic arch arteries giving double-outlet right ventricle, absent common carotid arteries and interruption of the aortic arch. Results In this study we have investigated both the effect of a different genetic background and Msx1 haploinsufficiency on the presentation of the Pax9-deficient cardiovascular phenotype. Compared to mice on a C57Bl/6 background, congenic CD1-Pax9–/– mice displayed a significantly reduced incidence of outflow tract defects but aortic arch defects were unchanged. Pax9–/– mice with Msx1 haploinsufficiency, however, have a reduced incidence of interrupted aortic arch, but more cases with cervical origins of the right subclavian artery and aortic arch, than seen in Pax9–/– mice. This alteration in arch artery defects was accompanied by a rescue in third pharyngeal arch neural crest cell migration and smooth muscle cell coverage of the third pharyngeal arch arteries. Although this change in phenotype could theoretically be compatible with post-natal survival, using tissue-specific inactivation of Pax9 to maintain correct palate development whilst inducing the cardiovascular defects was unable to prevent postnatal death in the mutant mice. Hyoid bone and thyroid cartilage formation were abnormal in Pax9–/– mice. Conclusions Msx1 haploinsufficiency mitigates the arch artery defects in Pax9–/– mice, potentially by maintaining the survival of the 3rd arch artery through unimpaired migration of neural crest cells to the third pharyngeal arches. With the neural crest cell derived hyoid bone and thyroid cartilage also being defective in Pax9–/– mice, we speculate that the pharyngeal endoderm is a key signalling centre that impacts on neural crest cell behaviour highlighting the ability of cells in different tissues to act synergistically or antagonistically during embryo development.

scholarly journals Asymptomatic Presacral Paraganglioma: Management of an Unpredictable Intraoperative Finding

2020 ◽  
Vol 06 (02) ◽  
pp. e131-e134
Author(s):  
Athina A. Samara ◽  
Alexandros Diamantis ◽  
Dimitrios Symeonidis ◽  
Athanasios Anagnostou ◽  
Andreas Marios Diamantis ◽  
...  
Keyword(s):  
Neural Crest ◽  
Neuroendocrine Tumors ◽  
Rare Case ◽  
Intraoperative Complications ◽  
Hypertensive Crisis ◽  
Clinical Suspicion ◽  
Anatomical Location ◽  
Presacral Mass ◽  
Life Threatening ◽  
High Level

AbstractParagangliomas are rare neuroendocrine tumors originating from the embryological neural crest. We report a rare case of a patient with an asymptomatic presacral mass (incidentaloma) who experienced an unpredictable intraoperative hypertensive crisis after manipulation of the tumor. Presacral neoplasms pose a diagnostic and therapeutic challenge due to their obscure anatomical location and the difficulty in performing an R0 excision. Furthermore, the management of asymptomatic paragangliomas requires a high level of clinical suspicion and expertise due to potential life-threatening intraoperative complications.

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