Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications

Pisano, Calogera; Maresi, Emiliano; Balistreri, Carmela Rita; Candore, Giuseppina; Merlo, Daniele; Fattouch, Khalil; Bianco, Giuseppe; Ruvolo, Giovanni

doi:10.1093/icvts/ivr114

Cited by 46 publications

(52 citation statements)

References 24 publications

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“…Among these studies, a study performed of my research group was included [43]. This meta-analysis showed a significant association between ACE I/D polymorphism and aortic aneurysm risk (OR =1.53, 95% CI 1.26-1.87, P b 0.01).…”

Section: Ras Pathway: Focus On D/i Ace Genetic Variantmentioning

confidence: 99%

Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk determinants

Balistreri

2015

Vascular Pharmacology

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Keywords:Sporadic thoracic aortic aneurysms (TAA) and dissections Genetic variants Biomarkers Targets for new personalized therapeutic treatments Sporadic thoracic aortic aneurysms (TAA) and dissections are one of the major causes of morbidity and mortality worldwide, especially in those older than 65 years. The presentation of TAA is varied and often silent. Thus, sporadic TAA detection is often fortuitous, with identification occurring during a routine physical examination or during an unrelated medical evaluation. Once suspected, confirmation by imaging clinical approaches is needed to allow the choose of the unique treatments for TAA, namely the surgery procedures, including elective surgery or endovascular repair before the onset of catastrophic and fatal complications, such as dissection or rupture. At present, there are no biomarkers available to identify TAAs before visible symptoms. However, recent progresses in understanding of molecular and cellular mechanisms involved in the patho-physiology of sporadic TAA are suggesting different molecular pathways and their genetic variants as potential biomarkers, which might be applied into TAA clinical practice in the near future. Here, we report literature evidence on some disease pathways and their genetic variants on TAA susceptibility and compliances, and their translation as promising TAA preventive and prognostic biomarkers and targets for new personalized therapeutic treatments.

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Section: Ras Pathway: Focus On D/i Ace Genetic Variantmentioning

confidence: 99%

Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk determinants

Balistreri

2015

Vascular Pharmacology

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“…Furthermore, procedures, criteria, definitions and grading systems for tissue sample collection, staining, histopathological and immunohistochemical assessment, Terminal deoxynucleotidyl transferase dUTP Nick End Labeling (TUNEL) testing, semi-quantitative MMP-9 evaluation and genotyping were performed as described in detail in the study of Pisano et al (13). Information on the ten SNPs analysed was acquired 3 (17) 34 (27) 1 (5) 7 (39) 66 (51) 3 (15%) 9 (50) 40 (31) 1 (5) 3 (17) 20 ( from db SNP NCBI and reported in detail in the same study.…”

mentioning

confidence: 99%

“…where appropriate). Significant relationship between genetic variables and pathology risk was analysed using quasi-likely hood binomial models (13).…”

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confidence: 99%

The Role of Inflammation in Type a Aortic Dissection: A Pilot Study

et al. 2013

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Type A aortic dissection (TAAD) is a severe cardiovascular disease with high mortality rates. Current evidence suggests inflammation as the main mechanism of its complex pathophysiology. Accordingly, in this study the eventual presence of inflammatory cells in aorta specimens and any contribution of these cells in both apoptosis and metalloproteinase levels were assessed. The potential relationship between plasma inflammatory molecules and TAAD was also detected. In addition, implication in TAAD susceptibility of ten common and functional single nucleotide polymorphisms (SNP)s of six candidate genes (CCR5, TLR4, ACE, eNOs, MMP-9 and -2) was determined. Thus, histo-pathological and immunoistochemical aorta examination, TUNEL testing, genotyping of ten SNPs were performed. Levels of plasma inflammatory molecules were also determined using ELISA technique. A significant inflammatory infiltrate was observed in the examined aortas. Consistent with these data, significantly higher plasma levels of systemic inflammatory mediators characterized the cases. In addition, a high risk genotype significantly associated with TAAD susceptibility was identified. Thus, inflammation producing MMPs, cytokines and death mediators seem to be the shared pathological mechanism for TAAD in the population examined.

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“…2-4 The valve-related aortic complications, called BAV-related aortopathy, occur in 10-35%, and aortic dissection occurs in approximately 4% of patients with BAV. 3 Patients with BAV and dilated aorta have a 9-fold increased risk of aortic dissection. 5 On histology, aortas with BAV frequently show cystic medial degeneration, a characteristic histopathological defect of the aortic media.…”

Section: Patient Selectionmentioning

confidence: 99%

Rate of Stenotic Bicuspid Aortic Valve Aortic Dilatation After Aortic Valve Replacement, Calculated Using a 3-Dimensional Reconstruction Tool

Hattori

Fukuda

Daitoku

et al. 2017

Circ J

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0.18±0.08 mm/m 2 after AVR. 9 The annual progression rate of BAV aortas, however, remains controversial, because the diameter of asymmetric dilated aorta is difficult to measure accurately on conventional computed tomography (CT). We postulated that the progression of ascending aortic diameter in BAV patients depends on its direction, because the dilated ascending aorta with BAV is expected to progress more rapidly toward the right-anterior quadrant, where WSS should be greater. 8 The aim of the present study was therefore to measure aortic diameter in the right-anterolateral direction in order to calculate an accurate progression rate of the asymmetric dilated ascending aorta after AVR. Aortic diameter was measured using 3-dimensional (3-D) reconstruction and an automated analysis tool, Mimics (Materialise, Leuven, Belgium), and the annual progression rate was compared between BAV and tricuspid aortic valve (TAV) patients. Methods Patient SelectionData derived from 28 patients (male, n=18; 64%; female, B icuspid aortic valve (BAV) is a common congenital heart malformation that occurs in 0.5-2% of the population. 1,2 Patients with BAV are at increased risk of developing serious aortic complications, including aortic dilatation, dissection and rupture after reaching adulthood. 2-4 The valve-related aortic complications, called BAV-related aortopathy, occur in 10-35%, and aortic dissection occurs in approximately 4% of patients with BAV. 3 Patients with BAV and dilated aorta have a 9-fold increased risk of aortic dissection. 5 On histology, aortas with BAV frequently show cystic medial degeneration, a characteristic histopathological defect of the aortic media. 3,5Ascending aortic dilatation associated with BAV frequently has an asymmetric configuration that bulges toward the right-anterior aspect of the aorta. 6 The asymmetric enlargement might be caused by valve-related hemodynamic abnormalities, which lead to the asymmetric distribution of wall shear stress (WSS). 7, 8 Yasuda et al reported that ascending aortic dilatation associated with BAV sometimes progresses even after aortic valve replacement (AVR). 9 They reported that the ascending aortic diameter increased at an annual rate of Background: Progression of asymmetric dilated aorta associated with bicuspid aortic valve (BAV) is difficult to evaluate conventionally. The aim of the study was to calculate the rate of progression of the dilated BAV aorta after aortic valve replacement (AVR) using a 3-dimensional (3-D) reconstruction tool.

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Histological and genetic studies in patients with bicuspid aortic valve and ascending aorta complications

Cited by 46 publications

References 24 publications

Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk determinants

Genetic contribution in sporadic thoracic aortic aneurysm? Emerging evidence of genetic variants related to TLR-4-mediated signaling pathway as risk determinants

The Role of Inflammation in Type a Aortic Dissection: A Pilot Study

Rate of Stenotic Bicuspid Aortic Valve Aortic Dilatation After Aortic Valve Replacement, Calculated Using a 3-Dimensional Reconstruction Tool

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