CHA2DS2-VASc Score, Mortality and Acute Myocardial Infarction in Patients With Nonvalvular Atrial Fibrillation

Hornik-Lurie, Tzipi; Minha, Sa’ar; Omelchenko, Alexander; Barashi, Rami; Arow, Ziad; Assali, Abid; Gabarin, Mustafa

doi:10.1016/j.amjcard.2022.06.052

Cited by 3 publications

(2 citation statements)

References 19 publications

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“…Given that approximately one-third of individuals with subclinical or silent AF are asymptomatic and likely undiagnosed, the actual prevalence of AF is obviously underestimated [ 6 , 7 , 8 ]. AF may markedly reduce the cardiac output with adverse hemodynamic consequences [ 1 ], contributing to a downgraded health-correlated quality of life [ 9 , 10 , 11 , 12 ], reduced exercise tolerance [ 13 , 14 , 15 ], impaired cognitive function and even dementia [ 16 , 17 , 18 , 19 , 20 , 21 ], ischemic cerebral stroke or systemic embolism [ 22 , 23 , 24 , 25 ], acute renal injury or chronic kidney disease [ 26 , 27 , 28 ], myocardial infarction [ 29 , 30 , 31 ], chronic/congestive heart failure [ 32 , 33 , 34 ], lethal ventricular arrhythmias [ 35 ], and premature cardiovascular death [ 36 , 37 , 38 , 39 ]. In fact, it has been reported that AF causes a 5-fold enhanced risk of stroke and is accountable for roughly one-third of all strokes, and, furthermore, AF-related stroke is associated with higher mortality compared with non-AF-associated stroke [ 1 ].…”

Section: Introductionmentioning

confidence: 99%

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Li,

Guo

et al. 2023

Biology

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Atrial fibrillation (AF), the most prevalent type of sustained cardiac dysrhythmia globally, confers strikingly enhanced risks for cognitive dysfunction, stroke, chronic cardiac failure, and sudden cardiovascular demise. Aggregating studies underscore the crucial roles of inherited determinants in the occurrence and perpetuation of AF. However, due to conspicuous genetic heterogeneity, the inherited defects accounting for AF remain largely indefinite. Here, via whole-genome genotyping with genetic markers and a linkage assay in a family suffering from AF, a new AF-causative locus was located at human chromosome 7p14.2-p14.3, a ~4.89 cM (~4.43-Mb) interval between the markers D7S526 and D7S2250. An exome-wide sequencing assay unveiled that, at the defined locus, the mutation in the TBX20 gene, NM_001077653.2: c.695A>G; p.(His232Arg), was solely co-segregated with AF in the family. Additionally, a Sanger sequencing assay of TBX20 in another family suffering from AF uncovered a novel mutation, NM_001077653.2: c.862G>C; p.(Asp288His). Neither of the two mutations were observed in 600 unrelated control individuals. Functional investigations demonstrated that the two mutations both significantly reduced the transactivation of the target gene KCNH2 (a well-established AF-causing gene) and the ability to bind the promoter of KCNH2, while they had no effect on the nuclear distribution of TBX20. Conclusively, these findings reveal a new AF-causative locus at human chromosome 7p14.2-p14.3 and strongly indicate TBX20 as a novel AF-predisposing gene, shedding light on the mechanism underlying AF and suggesting clinical significance for the allele-specific treatment of AF patients.

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Section: Introductionmentioning

confidence: 99%

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Li,

Guo

et al. 2023

Biology

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“… 1 Catheter ablation is an effective option to improve the prognosis of patients with AF. 2 Despite its introduction as a stroke risk stratification tool, several studies have shown that the CHA 2 DS 2 -VASc score could predict mortality in patients with AF 3 , 4 and identify major adverse cardiovascular events (MACE) in those undergoing catheter ablation. 5 However, data on the performance of various risk stratification scores in predicting mortality risk after AF ablation procedures are sparse.…”

mentioning

confidence: 99%

The ABC-Death Score for Mortality Prediction in Patients With Atrial Fibrillation Undergoing Catheter Ablation

Wang,

Jiang,

et al. 2023

JACC: Asia

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Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation

Jiang,

Sun,

Qiu

et al. 2024

Diagnostics

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Background: Atrial fibrillation (AF) signifies the most prevalent supraventricular arrhythmia in humans and may lead to cerebral stroke, cardiac failure, and even premature demise. Aggregating strong evidence points to genetic components as a cornerstone in the etiopathogenesis of familial AF. However, the genetic determinants for AF in most patients remain elusive. Methods: A 4-generation pedigree with idiopathic AF and another cohort of 196 unrelated patients with idiopathic AF as well as 278 unrelated healthy volunteers were recruited from the Chinese population of Han ethnicity. A family-based whole-exome sequencing examination followed by a Sanger sequencing assay in all research subjects was implemented. The functional impacts of the identified SOX4 mutations were explored via a dual-reporter assay. Results: Two new heterozygous SOX4 mutations, NM_003107.3: c.211C>T; p.(Gln71*) and NM_003107.3: c.290G>A; p.(Trp97*), were observed in the family and 1 of 196 patients with idiopathic AF, respectively. The two mutations were absent in the 278 control individuals. The biochemical measurements revealed that both Gln71*- and Trp97*-mutant SOX4 failed to transactivate GJA1 (Cx43). Moreover, the two mutations nullified the synergistic activation of SCN5A by SOX4 and TBX5. Conclusions: The findings first indicate SOX4 as a gene predisposing to AF, providing a novel target for antenatal genetic screening, individualized prophylaxis, and precision treatment of AF.

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CHA2DS2-VASc Score, Mortality and Acute Myocardial Infarction in Patients With Nonvalvular Atrial Fibrillation

Cited by 3 publications

References 19 publications

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

Discovery of TBX20 as a Novel Gene Underlying Atrial Fibrillation

The ABC-Death Score for Mortality Prediction in Patients With Atrial Fibrillation Undergoing Catheter Ablation

Identification and Functional Investigation of SOX4 as a Novel Gene Underpinning Familial Atrial Fibrillation

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