Congenital giant left ventricular aneurysm

Bekheet, Samia B.; Al‐Radi, Osman O.; Zahr, Riad Abou

doi:10.1017/s1047951122003651

Cited by 1 publication

(1 citation statement)

References 8 publications

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“…Notably, if minor cardiac developmental aberrations are encompassed, such as patent foramen ovale and aortic bicuspid valve, the prevalence of CHD rises to around 5% of all live births [4][5][6]. As an array of cardiovascular developmental deformations, CHD is clinically categorized into > 30 distinct isoforms, encompassing double-outlet right ventricle (DORV) and ventricular septal defect (VSD) [2,[7][8][9][10][11][12][13][14]. Though certain mild/minor forms of CHD may resolve spontaneously [2], severe/complex forms of CHD usually lead to worse quality of life [15][16][17], reduced exercise performance [18][19][20][21], neurodevelopmental delay and structural brain anomaly [22][23][24][25][26], ischemic/thromboembolic stroke [27,28], acute renal injury/chronic kidney disease [29][30][31][32], hepatic fibrosis [33,34], pulmonary dysplasia/ pulmonary arterial hypertension [35][36][37], bacte-Am J Transl Res 2024;16 (5):2034-2048 rial endocarditis [38][39][40][41][42], chronic heart failure …”

Section: Introductionmentioning

confidence: 99%

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Wang

2024

Am J Transl Res

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Objective: Aggregating evidence highlights the strong genetic basis underpinning congenital heart disease (CHD). Here BMP4 was chosen as a prime candidate gene causative of human CHD predominantly because BMP4 was amply expressed in the embryonic hearts and knockout of Bmp4 in mice led to embryonic demise mainly from multiple cardiovascular developmental malformations. The aim of this retrospective investigation was to discover a novel BMP4 mutation underlying human CHD and explore its functional impact. Methods: A sequencing examination of BMP4 was implemented in 212 index patients suffering from CHD and 236 unrelated non-CHD individuals as well as the family members available from the proband carrying a discovered BMP4 mutation. The impacts of the discovered CHD-causing mutation on the expression of NKX2-5 and TBX20 induced by BMP4 were measured by employing a dual-luciferase analysis system. Results: A new heterozygous BMP4 mutation, NM_001202.6:c.318T>G;p. (Tyr106*), was found in a female proband affected with familial CHD. Genetic research of the mutation carrier's relatives unveiled that the truncating mutation was in co-segregation with CHD in the pedigree. The nonsense mutation was absent from 236 unrelated non-CHD control persons. Quantitative biologic measurement revealed that Tyr106*-mutant BMP4 failed to induce the expression of NKX2-5 and TBX20, two genes whose expression is lost in CHD. Conclusion: The current findings indicate BMP4 as a new gene predisposing to human CHD, allowing for improved prenatal genetic counseling along with personalized treatment of CHD patients.

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