Identification of a novel GATA binding protein 5 variant (c.830C&amp;gt;T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot

Jin, Jie‐Yuan; Wu, Liping; Dong, Yi; Pi, Hui-Chun; Wu, Hui‐Fen; Xiang, Rong

doi:10.1093/qjmed/hcab317

Cited by 2 publications

(2 citation statements)

References 9 publications

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“…Table 2 presents a comprehensive overview of the genes associated with bicuspid aortic valve disease, believed to contribute to the development of this specific valve morphology [ 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 ]. Upon closer examination of these genes and the pathways they participate in, alongside congenital heart syndromes commonly featuring BAV, the genetic foundation of BAV can be succinctly summarized as follows: Function and Dysfunction of Cardiogenesis-Polarization Genes: Notably, genes integral to cardiogenesis, such as GATA and NKX2-5, play a pivotal role.…”

Section: Aetiology Of Bicuspid Aortic Valvementioning

confidence: 99%

“…Table 2 presents a comprehensive overview of the genes associated with bicuspid aortic valve disease, believed to contribute to the development of this specific valve morphology [32][33][34][35][36][37][38][39][40][41][42][43][44][45]. Upon closer examination of these genes and the pathways they participate in, alongside congenital heart syndromes commonly featuring BAV, the genetic foundation of BAV can be succinctly summarized as follows:…”

Section: Bicuspid Aortic Valve and Genetic Backgroundmentioning

confidence: 99%

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A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines

Bulut,

Arjomandi Rad,

Syrengela

et al. 2023

JCDD

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Objective: bicuspid aortic valve (BAV) stands as the most prevalent congenital heart condition intricately linked to aortic pathologies encompassing aortic regurgitation (AR), aortic stenosis, aortic root dilation, and aortic dissection. The aetiology of BAV is notably intricate, involving a spectrum of genes and polymorphisms. Moreover, BAV lays the groundwork for an array of structural heart and aortic disorders, presenting varying degrees of severity. Establishing a tailored clinical approach amid this diverse range of BAV-related conditions is of utmost significance. In this comprehensive review, we delve into the epidemiology, aetiology, associated ailments, and clinical management of BAV, encompassing imaging to aortic surgery. Our exploration is guided by the perspectives of the aortic team, spanning six distinct guidelines. Methods: We conducted an exhaustive search across databases like PubMed, Ovid, Scopus, and Embase to extract relevant studies. Our review incorporates 84 references and integrates insights from six different guidelines to create a comprehensive clinical management section. Results: BAV presents complexities in its aetiology, with specific polymorphisms and gene disorders observed in groups with elevated BAV prevalence, contributing to increased susceptibility to other cardiovascular conditions. The altered hemodynamics inherent to BAV instigate adverse remodelling of the aorta and heart, thus fostering the development of epigenetically linked aortic and heart diseases. Employing TTE screening for first-degree relatives of BAV patients might be beneficial for disease tracking and enhancing clinical outcomes. While SAVR is the primary recommendation for indicated AVR in BAV, TAVR might be an option for certain patients endorsed by adept aortic teams. In addition, proficient teams can perform aortic valve repair for AR cases. Aortic surgery necessitates personalized evaluation, accounting for genetic makeup and risk factors. While the standard aortic replacement threshold stands at 55 mm, it may be tailored to 50 mm or even 45 mm based on patient-specific considerations. Conclusion: This review reiterates the significance of considering the multifactorial nature of BAV as well as the need for further research to be carried out in the field.

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Section: Aetiology Of Bicuspid Aortic Valvementioning

confidence: 99%

“…Table 2 presents a comprehensive overview of the genes associated with bicuspid aortic valve disease, believed to contribute to the development of this specific valve morphology [32][33][34][35][36][37][38][39][40][41][42][43][44][45]. Upon closer examination of these genes and the pathways they participate in, alongside congenital heart syndromes commonly featuring BAV, the genetic foundation of BAV can be succinctly summarized as follows:…”

Section: Bicuspid Aortic Valve and Genetic Backgroundmentioning

confidence: 99%

A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines

Bulut,

Arjomandi Rad,

Syrengela

et al. 2023

JCDD

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Genetic insights into non-syndromic Tetralogy of Fallot

Althali

Hentges

2022

Front. Physiol.

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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. Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital cardiac abnormality, affecting three out of every 10,000 live infants with a prevalence rate of 5–10% of all congenital cardiac defects. The four hallmark characteristics of TOF are: right ventricular hypertrophy, pulmonary stenosis, ventricular septal defect, and overriding aorta. Approximately 20% of cases of TOF are associated with a known disease or chromosomal abnormality, with the remaining 80% of TOF cases being non-syndromic, with no known aetiology. Relatively few TOF patients have been studied, and little is known about critical causative genes for non-syndromic TOF. However, rare genetic variants have been identified as significant risk factors for CHD, and are likely to cause some cases of TOF. Therefore, this review aims to provide an update on well-characterized genes and the most recent variants identified for non-syndromic TOF.

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Identification of a novel GATA binding protein 5 variant (c.830C>T/p.P277L) damaging the nuclear translocation and causing tetralogy of Fallot

Cited by 2 publications

References 9 publications

A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines

A Comprehensive Review of Management Strategies for Bicuspid Aortic Valve (BAV): Exploring Epidemiology, Aetiology, Aortopathy, and Interventions in Light of Recent Guidelines

Genetic insights into non-syndromic Tetralogy of Fallot

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