Статті в журналах: "Non-syndromic thoracic aneurysm"

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Martin‐Blazquez, Ariadna, Angeles Heredero, Gonzalo Aldamiz‐Echevarria, Marta Martin‐Lorenzo, and Gloria Alvarez‐Llamas. "Non‐syndromic thoracic aortic aneurysm: cellular and molecular insights." Journal of Pathology 254, no. 3 (May 24, 2021): 229–38. http://dx.doi.org/10.1002/path.5683.

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Luyckx, Ilse, and Bart L. Loeys. "The genetic architecture of non-syndromic thoracic aortic aneurysm." Heart 101, no. 20 (September 9, 2015): 1678–84. http://dx.doi.org/10.1136/heartjnl-2014-306381.

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Arroyave, Jose, Juan Manuel Carretero, and Domenico Gruosso. "Isolated aortic dilation without osteoarthritis: a case of SMAD3 mutation." Cardiology in the Young 28, no. 5 (February 15, 2018): 765–67. http://dx.doi.org/10.1017/s1047951118000082.

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AbstractAneurysm–osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm–osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.

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Ostberg, Nicolai P., Mohammad A. Zafar, Bulat A. Ziganshin, and John A. Elefteriades. "The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective." Biomolecules 10, no. 2 (January 24, 2020): 182. http://dx.doi.org/10.3390/biom10020182.

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Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.

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Monda, Emanuele, Michele Lioncino, Federica Verrillo, Marta Rubino, Martina Caiazza, Alfredo Mauriello, Natale Guarnaccia, et al. "The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases." Diagnostics 13, no. 4 (February 17, 2023): 772. http://dx.doi.org/10.3390/diagnostics13040772.

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Heritable thoracic aortic disease (HTAD) is a term used to define a large group of disorders characterized by the occurrence of aortic events, mainly represented by aneurysm or dissection. These events generally involve the ascending aorta, although the involvement of other districts of the aorta or peripheral vessels may occur. HTAD can be classified as non-syndromic if the disorder is limited to the aorta, and syndromic when associated with extra-aortic features. About 20–25% of patients with non-syndromic HTAD exhibit a family history of aortic disease. Thus, a careful clinical evaluation of the proband and the first-degree family members is required to differentiate familial and sporadic cases. Genetic testing is essential since it allows confirmation of the etiological diagnosis of HTAD (particularly in patients with a significant family history) and may guide family screening. In addition, genetic diagnosis significantly impacts patients’ management since the different conditions significantly differ with respect to natural history and treatment strategies. The prognosis in all HTADs is determined by the progressive dilation of the aorta, potentially leading to acute aortic events, such as dissection or rupture. Moreover, the prognosis varies according to the underlying genetic mutations. This review aims to describe the clinical characteristics and natural history of the most common HTADs, with particular emphasis on the role of genetic testing in risk stratification and management.

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De Cario, Rosina, Marco Giannini, Giulia Cassioli, Ada Kura, Anna Maria Gori, Rossella Marcucci, Stefano Nistri, Guglielmina Pepe, Betti Giusti, and Elena Sticchi. "Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection." Diagnostics 12, no. 8 (July 22, 2022): 1785. http://dx.doi.org/10.3390/diagnostics12081785.

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The main challenge in diagnosing and managing thoracic aortic aneurysm and dissection (TAA/D) is represented by the early detection of a disease that is both deadly and “elusive”, as it generally grows asymptomatically prior to rupture, leading to death in the majority of cases. Gender differences exist in aortic dissection in terms of incidence and treatment options. Efforts have been made to identify biomarkers that may help in early diagnosis and in detecting those patients at a higher risk of developing life-threatening complications. As soon as the hereditability of the TAA/D was demonstrated, several genetic factors were found to be associated with both the syndromic and non-syndromic forms of the disease, and they currently play a role in patient diagnosis/prognosis and management-guidance purposes. Likewise, circulating biomarker could represent a valuable resource in assisting the diagnosis, and several studies have attempted to identify specific molecules that may help with risk stratification outside the emergency department. Even if promising, those data lack specificity/sensitivity, and, in most cases, they need more testing before entering the “clinical arena”. This review summarizes the state of the art of the laboratory in TAA/D diagnostics, with particular reference to the current and future role of molecular-genetic testing.

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Gasiulė, Stankevičius, Patamsytė, Ražanskas, Žukovas, Kapustina, Žaliaduonytė, Benetis, Lesauskaitė, and Vilkaitis. "Tissue-Specific miRNAs Regulate the Development of Thoracic Aortic Aneurysm: the Emerging Role of KLF4 Network." Journal of Clinical Medicine 8, no. 10 (October 3, 2019): 1609. http://dx.doi.org/10.3390/jcm8101609.

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MicroRNAs (miRNAs) are critical regulators of the functional pathways involved in the pathogenesis of cardiovascular diseases. Understanding of the disease-associated alterations in tissue and plasma will elucidate the roles of miRNA in modulation of gene expression throughout development of sporadic non-syndromic ascending thoracic aortic aneurysm (TAA). This will allow one to propose relevant biomarkers for diagnosis or new therapeutic targets for the treatment. The high-throughput sequencing revealed 20 and 17 TAA-specific miRNAs in tissue and plasma samples, respectively. qRT-PCR analysis in extended cohort revealed sex-related differences in miR-10a-5p, miR-126-3p, miR-155-5p and miR-148a-3p expression, which were the most significantly dysregulated in TAA tissues of male patients. Unexpectedly, the set of aneurysm-related miRNAs in TAA plasma did not resemble the tissue signature suggesting more complex organism response to the disease. Three of TAA-specific plasma miRNAs were found to be restored to normal level after aortic surgery, further signifying their relationship to the pathology. The panel of two plasma miRNAs, miR-122-3p, and miR-483-3p, could serve as a potential biomarker set (AUC = 0.84) for the ascending TAA. The miRNA-target enrichment analysis exposed TGF-β signaling pathway as sturdily affected by abnormally expressed miRNAs in the TAA tissue. Nearly half of TAA-specific miRNAs potentially regulate a key component in TGF-β signaling: TGF-β receptors, SMADs and KLF4. Indeed, using immunohistochemistry analysis we detected increased KLF4 expression in 27% of TAA cells compared to 10% of non-TAA cells. In addition, qRT-PCR demonstrated a significant upregulation of ALK1 mRNA expression in TAA tissues. Overall, these observations indicate that the alterations in miRNA expression are sex-dependent and play an essential role in TAA via TGF-β signaling.

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Holt, Margrethe, Bjørn E. Seim, Jonas Øgaard, Maria B. Olsen, Per R. Woldbæk, John-Peder Escobar Kvitting, Pål Aukrust, et al. "Selective and marked decrease of complement receptor C5aR2 in human thoracic aortic aneurysms: a dysregulation with potential inflammatory effects." Open Heart 6, no. 2 (November 2019): e001098. http://dx.doi.org/10.1136/openhrt-2019-001098.

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ObjectiveThe aetiology of thoracic aortic aneurysm (TAA) is largely unknown, but inflammation is likely to play a central role in the pathogenesis. In this present study, we aim to investigate the complement receptors in TAA.MethodsAortic tissue and blood from 31 patients with non-syndromic TAA undergoing thoracic aortic repair surgery were collected. Aortic tissue and blood from 36 patients with atherosclerosis undergoing coronary artery bypass surgery or aortic valve replacement were collected and served as control material. The expression of the complement anaphylatoxin receptors C3aR1, C5aR1 and C5aR2 in aortic tissue were examined by quantitative RT-PCR and C5aR2 protein by immunohistochemistry. Colocalisation of C5aR2 to different cell types was analysed by immunofluorescence. Complement activation products C3bc and sC5b-9 were measured in plasma.ResultsCompared with controls, TAA patients had substantial (73%) downregulated gene expression of C5aR2 as seen both at the mRNA (p=0.005) level and protein (p=0.03) level. In contrast, there were no differences in the expression of C3aR1 and C5aR1 between the two groups. Immunofluorescence examination showed that C5aR2 was colocalised to macrophages and T cells in the aortic media. There were no differences in the degree of systemic complement activation between the two groups.ConclusionOur findings suggest downregulation of the C5aR2, regarded to act mainly anti-inflammatory, in electively operated TAA as compared with non-aneurysmatic aortas of patients with aortic stenosis and/or coronary artery disease. This may tip the balance towards a relative increase in the inflammatory responses induced by C5aR1 and thus enhance the inflammatory processes in TAA.

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Patuzzo, Cristina, A. Pasquali, E. Trabetti, G. Malerba, PF Pignatii, M. Tessari, and G. Faggian. "A Preliminary microRNA Analysis of non Syndromic Thoracic Aortic Aneurysms." Balkan Journal of Medical Genetics 15, Supplement (December 1, 2012): 51–55. http://dx.doi.org/10.2478/v10034-012-0019-6.

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ABSTRACT The development of thoracic aortic aneurysms (TAAs) involves a multifactorial process resulting in alterations of the structure and composition of the extracellular matrix (ECM). Recently, modifications in microRNA (miRNA) expression were implicated in the pathogenesis of TAA. This study presents a preliminary miRNA microarray analysis conducted on pooled ascending aorta RNAs obtained from non familial non syndromic TAA patients (five males and five females) compared to matched control pools. Ninety-nine differentially expressed miRNAs with >1.5-foldup- or down-regulation in TAAs compared to controls were identified, 16.0% of which were similarly regulated in the two sexes. Genes putatively targeted by differentially expressed miRNAs belonged preferentially to focal adhesion and adherens junction pathways. The results indicate an altered regulation of miRNA-mediated gene expression in the cellular interactions of aneurysmal aortic wall.

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Zhang, Eryong. "Non-syndromic thoracic aortic aneurysms and dissections-a genetic review." Frontiers in Bioscience 18, no. 1 (2013): 305. http://dx.doi.org/10.2741/4101.

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Kathiravel, Ushanthine, Britta Keyser, Sabine Hoffjan, Judith Kötting, Melanie Müller, Sugirthan Sivalingam, Michael Bonin, et al. "High-density oligonucleotide-based resequencing assay for mutations causing syndromic and non-syndromic forms of thoracic aortic aneurysms and dissections." Molecular and Cellular Probes 27, no. 2 (April 2013): 103–8. http://dx.doi.org/10.1016/j.mcp.2012.10.002.

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Chiarini, Anna, Francesco Onorati, Maddalena Marconi, Alessandra Pasquali, Cristina Patuzzo, Anna Malashicheva, Olga Irtyega, et al. "Studies on sporadic non-syndromic thoracic aortic aneurysms: II. Alterations of extra-cellular matrix components and focal adhesion proteins." European Journal of Preventive Cardiology 25, no. 1_suppl (April 30, 2018): 51–58. http://dx.doi.org/10.1177/2047487318759120.

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Background Sporadic non-syndromic thoracic aortic aneurysms (SNSTAAs) are less well understood than familial non-syndromic or syndromic ones. Here, we focused on morphologic and molecular changes of the extracellular matrix of the tunica media of SNSTAAs. Design Single centre design. Methods Surgical media samples from seven SNSTAAs and seven controls underwent quantitative polymerase chain reaction, proteomics-bioinformatics, immunoblotting, histology and immunohistochemistry analysis. Results A down-regulation of Decorin mRNA with unchanged protein levels associated with a remarkable increase of collagen fibres. A reduced and distorted network of elastic fibres partnered with an attenuated expression of microfibril-associated glycoprotein1 despite the rise of MFAP2 gene-encoded mRNA levels. An increasingly proteolysed paxillin (55 kDa PXN), a focal adhesion protein, combined with an upregulated 62 kDa PXN holoprotein, without changes in amount and phosphorylation of focal adhesion kinase (pp125FAK). The upregulation of SPOCK2-encoded Testican2 proteoglycan and of ectodysplasin (EDA) protein was coupled with a down-regulation of EDA2 receptor (EDA2R). Conclusions Several tunica media extracellular matrix-related changes favour SNSTAA development. A steady level of decorin and a microfibril-associated glycoprotein1 protein shortage cause the assembly of structurally defective collagen and elastic fibres. Up-regulation of PXN holoproteins perturbs PXN/pp125FAK interaction and focal adhesion functioning. Testican2 up-regulation suppresses the membrane-type matrix metalloproteinase inhibiting activities of other SPOCK family members thus enhancing extracellular matrix proteolysis. Finally, the altered EDA•EDA2R signalling would impact on the remodelling of SNSTAA tunica media. Altogether, our results pave the way to a deeper molecular understanding of SNSTAAs necessary to identify their early diagnostic biochemical markers.

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Panfilov, D. S., V. V. Saushkin, E. L. Sonduev, S. I. Sazonova, and B. N. Kozlov. "Gender-specifi c differences in ascending aortic surgery." Siberian Journal of Clinical and Experimental Medicine 37, no. 3 (October 20, 2022): 108–13. http://dx.doi.org/10.29001/2073-8552-2022-37-3-108-113.

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Introduction. According to recent data, thoracic aortic surgery have reduced morbidity and mortality, however, women are at increased postoperative risk of adverse outcomes. Our aim was to evaluate and compare early outcomes in male and female patients undergoing ascending aortic replacement.Methods. A total of 88 patients, consisting of 54 men (61.4%) and 34 women (38.6%) underwent ascending aortic surgery for non-syndromic aneurysms from January 2013 to December 2021. We analyzed clinical outcomes between males and females.Results. According to computed tomographic angiography, preoperative normalized aortic diameters were significantly larger in females (2.9 [2.7; 3.2] cm/m2) vs. (2.5 [2.3; 2.6] cm/m2, p < 0.001) in males, without differences in absolute values (51 [49; 53] mm vs. 52 [50; 53] mm, p = 0.356). There were no significant differences in neurological, cardiac, pulmonary, and renal complications in both groups in the early postoperative period. In-hospital mortality was 1.9% and 5.9% (p = 0.307) in male and female patients, respectively.Conclusions. Ascending aortic surgery for aneurysms below 5.5 cm threshold has tolerable early outcomes both in men and women.

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Chiarini, Anna, Francesco Onorati, Maddalena Marconi, Alessandra Pasquali, Cristina Patuzzo, Anna Malashicheva, Olga Irtyega, et al. "Studies on sporadic non-syndromic thoracic aortic aneurysms: 1. Deregulation of Jagged/Notch 1 homeostasis and selection of synthetic/secretor phenotype smooth muscle cells." European Journal of Preventive Cardiology 25, no. 1_suppl (April 30, 2018): 42–50. http://dx.doi.org/10.1177/2047487318759119.

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Background Sporadic non-syndromic thoracic aortic aneurysms (SNSTAAs) are less well understood than familial non-syndromic or syndromic ones. The study aimed at defining the peculiar morphologic and molecular changes occurring in the media layer of SNSTAAs. Design This study was based on a single centre design. Methods Media layer samples taken from seven carefully selected SNSTAAs and seven reference patients (controls) were investigated via quantitative polymerase chain reaction, proteomics-bioinformatics, immunoblotting, quantitative histology, and immunohistochemistry/immunofluorescence. Results In SNSTAAs media, aortic smooth muscle cells numbers were halved due to an apoptotic process coupled with a negligible cell proliferation. Cystathionine γ-lyase was diffusely up-regulated. Surviving aortic smooth muscle cells exhibited diverging phenotypes: in inner- and outer-media contractile cells prevailed, having higher contents of smooth-muscle-α-actin holoprotein (45-kDa) and of caspase-3-cleaved smooth-muscle-α-actin 25-kDa fragments; in mid-media, aortic smooth muscle cells exhibited a synthetic/secretor phenotype, down-regulating vimentin, but up-regulating glial fibrillary acidic protein, trans-Golgi network 46 protein, Jagged1 (172-kDa) holoprotein, and Jagged1’s receptor Notch1. Extracellular soluble Jagged1 (42-kDa) fragments accumulated. Conclusions In SNSTAAs, there is a relentless aortic smooth muscle cells attrition caused by the up-regulated cystathionine γ-lyase. In mid-media, synthetic/secretor aortic smooth muscle cells intensify Jagged1/NOTCH1 signalling in the attempt to counterbalance the weakened aortic wall, due to aortic smooth muscle cells net loss and mechanical stress. Synthetic/secretor aortic smooth muscle cells are apoptosis-prone, and the accruing thrombin-cleaved Jagged1 fragments counteract the otherwise useful effects of Jagged1/NOTCH1 signalling, thus hampering tissue homeostasis/remodelling, and aortic smooth muscle cells adhesion, differentiation, and migration.

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Rohde, Stefanie, Mohammad A. Zafar, Bulat A. Ziganshin, and John A. Elefteriades. "Thoracic aortic aneurysm gene dictionary." Asian Cardiovascular and Thoracic Annals, July 20, 2020, 021849232094380. http://dx.doi.org/10.1177/0218492320943800.

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Thoracic aortic aneurysm is typically clinically silent, with a natural history of progressive enlargement until a potentially lethal complication such as rupture or dissection occurs. Underlying genetic predisposition strongly influences the risk of thoracic aortic aneurysm and dissection. Familial cases are more virulent, have a higher rate of aneurysm growth, and occur earlier in life. To date, over 30 genes have been associated with syndromic and non-syndromic thoracic aortic aneurysm and dissection. The causative genes and their specific variants help to predict the disease phenotype, including age at presentation, risk of dissection at small aortic sizes, and risk of other cardiovascular and systemic manifestations. This genetic “dictionary” is already a clinical reality, allowing us to personalize care based on specific causative mutations for a substantial proportion of these patients. Widespread genetic sequencing of thoracic aortic aneurysm and dissection patients has been and continues to be crucial to the rapid expansion of this dictionary and ultimately, the delivery of truly personalized care to every patient.

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El-Gamel, Adam, Josephine Mac, Steve Bird, Megan N. C. Grainger, and Gregory M. Jacobson. "Low copper levels measured in the aortic wall of New Zealand patients with nonsyndromic ascending thoracic aortic aneurysm." Interactive CardioVascular and Thoracic Surgery, September 5, 2022. http://dx.doi.org/10.1093/icvts/ivac235.

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Abstract OBJECTIVES Studies in animals have shown causal relationships between copper (Cu) deficiency and the development of thoracic aortic aneurysms (TAA) [1, 2]. Copper-deficiency is widespread in New Zealand (NZ) soils; the high soil pH from the use of lime fertilizers reduces the bioavailability of Cu for grazing animals and growing plants; this, in turn, reduces Cu availability in the NZ human food chain. Our study is a pilot study to explore associations between copper and TAA. We measured Cu levels in aneurysmal aortic tissues in patients undergoing Bentall procedures and non-aneurysmal aortic tissue from Coronary Artery Bypass Graft (CABG) patients. METHODS Aortic samples were collected from two groups of patients during elective open-heart surgery over four months between November 2017 and February 2018. The groups were a TAA group, patients with non-syndromic Aortic aneurysm and without the bicuspid aortic valve or known infectious or inflammatory condition (ANEURYSM; n = 13), and a control CABG group (CONTROL; n = 44). Standardized digested dry tissue weighed samples were analyzed from both groups. Tissue extraction of trace elements was carried out using HCl-H2O2 digestion and a highly sensitive analytical technique, Inductively Coupled Plasma Mass Spectrometry (ICP-MS) - used to measure elemental concentrations. RESULTS Copper concentration (mean ± SD) was significantly lower in ANEURYSM (3.34 ± 0.16 ug/g) when compared to the CONTROL group tissues (4.33 ± 0.20 ug/g) (dry weight; mean±SD; Student's t-test p < 0.05). Over 46% of the Aneurysm patients were Maori and live in a geographically copper-deficient NZ territory. CONCLUSIONS Copper deficiency may play a role in the development or progression of non-syndromic ascending aortic aneurysms in NZ. Maori patients are more at risk as they commonly live in rural New Zealand, dependant on locally grown nutritional sources. Further studies are required to confirm this exciting finding and to establish cause and effect relationship.

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Thakker, Prashanth D., and Alan C. Braverman. "Cardiogenetics: genetic testing in the diagnosis and management of patients with aortic disease." Heart, December 17, 2020, heartjnl—2020–317036. http://dx.doi.org/10.1136/heartjnl-2020-317036.

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Thoracic aortic aneurysm and aortic dissection have a potent genetic underpinning with 20% of individuals having an affected relative. Heritable thoracic aortic diseases (HTAD) may be classified as syndromic (including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome and others) or non-syndromic (without recognisable phenotypes) and relate to pathogenic variants in multiple genes affecting extracellular matrix proteins, transforming growth factor-beta (TGF-β) signalling and smooth muscle contractile function. Clinical and imaging characteristics may heighten likelihood of an underlying HTAD. HTAD should be investigated in individuals with thoracic aortic aneurysm or aortic dissection, especially when occurring in younger individuals, in those with phenotypic features and in those with a family history of aneurysm disease. Screening family members for aneurysm disease is important. Consultation with a medical geneticist and genetic testing of individuals at increased risk for HTAD is recommended. Medical management and prophylactic aortic surgical thresholds are informed by an accurate clinical and molecular diagnosis.

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Rodriguez Ortuno, J., M. L. Pena Pena, J. E. Lopez Haldon, and A. Adsuar Gomez. "Utility of familial screening in non-syndromic thoracic aortic disease." European Heart Journal 42, Supplement_1 (October 1, 2021). http://dx.doi.org/10.1093/eurheartj/ehab724.2016.

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Abstract Background Non-syndromic heritable thoracic aortic disease (nsHTAD) is an autosomal dominant disorder with high mortality rate if undetected. Familial evaluation could be useful to identify high-risk patients early. Purpose To assess the yield of clinical and genetic screening in a cohort of patients with suspected nsHTAD. Methods We collected clinical and genetic data about patients with suspected nsHTAD treated in a specialized clinic. Bicuspid aortic valve cases were excluded. Genetic study was performed with next-generation-sequencing, including at least 30 related genes. All first degree relatives were offered evaluation according to current guidelines. Results Twenty-five index cases were analysed (mean age: 48.3 years, male: 64%). Sixteen patients (64%) presented with acute aortic dissection (postmortem diagnosis was performed in 6 cases with sudden cardiac death). Hypertension was reported in 13 cases (52%) and 8 patients (32%) had smoking history. Family history of aortic aneurysm or dissection was identified in 13 cases (52%). Eighty-three first-degree relatives were evaluated. Clinically affected family members were detected in 10 families (40%). Genetic cause of the disease was identified in 6 families (24%). Table 1 describes main characteristics of index cases with pathogenic variants. Combined clinical and genetic screening was positive in 12 families (48%) and identified 24 relatives (29%) with aortic dilatation or carrier status for the disease. Conclusions The combination of clinical and genetic screening in suspected nsHTAD is a useful tool for early detection of the disease in family members at risk and for the prevention of future complications. Funding Acknowledgement Type of funding sources: None. Table 1

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Robertson, Elizabeth N., Paul G. Bannon, and Richmond W. Jeremy. "Long-term outcomes in heritable thoracic aortic disease." Frontiers in Cardiovascular Medicine 9 (October 13, 2022). http://dx.doi.org/10.3389/fcvm.2022.1009947.

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Heritable aortic aneurysm is an increasingly recognized cause of morbidity and mortality. Whilst Marfan syndrome (MFS) is well-known, the clinical presentation and prognosis of more newly described genetic syndromes is less familiar to clinicians. There is a particular lack of knowledge regarding clinical outcomes for non-syndromal heritable aortic disease. This study investigated the presentation, clinical course and survival of patients with syndromal [Loeys-Dietz, aneurysm-osteoarthritis, and aneurysm-cerebral arteriopathy (ACTA2) syndrome] and non-syndromal heritable aortic disease in comparison to MFS. The study group includes 536 individuals (283 Marfan, 176 non-syndromal heritable aortopathy, 36 aneurysm-osteoarthritis, 32 Loeys-Dietz, and 9 ACTA2 aneurysm) enrolled in a longitudinal clinical follow-up between 1990 and 2022. Age at diagnosis differed between groups: Marfan = 22.0 ± 16.6; Loeys-Dietz = 29.6 ± 21.5; aneurysm-osteoarthritis = 36.4 ± 18.8; ACTA2 aneurysm = 43.4 ± 18.6; non-syndromal heritable aortopathy = 47.2 ± 16.6 years (p < 0.001). Aortic dissection was the presenting event in 8% individuals with Marfan compared to 27% with non-syndromal heritable aortopathy and 34% with Loeys-Dietz syndrome (p < 0.01). Mean follow-up duration for the group was 16.4 years (range 0.2–30 years) and 74 individuals died during follow-up (Marfan = 52, Loeys-Dietz = 6, aneurysm-osteoarthritis = 4, ACTA2 aneurysm = 1, heritable non-syndromal aortopathy = 11). At 10 years follow-up, actuarial mean survivals were: aneurysm-osteoarthritis = 77.5 ± 10.4%; Loeys-Dietz = 90.0 ± 6.8%; Marfan = 94.6 ± 1.4%; heritable non-syndromal aortopathy = 95.9 ± 2.1% (NS). There were 60 aortic dissections (24 Type A, 36 Type B) during follow-up. At 10 years, survival free of dissection was comparable between groups: aneurysm-osteoarthritis = 90.7 ± 6.4%; Loeys-Dietz = 94.4 ± 5.4%; Marfan = 96.1 ± 1.2%; heritable non-syndromal aortopathy = 93.9 ± 2.3%, with similar findings at 20 years. Prophylactic aortic surgery was a first event during follow-up for 196 individuals (ACTA2 aneurysm = 3; aneurysm-osteoarthritis = 10; Loeys-Dietz = 19; Marfan = 119; heritable non-syndromal aortopathy = 45). A second surgical intervention was required in 45 individuals and a third intervention in 21 individuals. At 10 years follow-up, survival free of surgery differed between groups: aneurysm-osteoarthritis = 68.5 ± 10.1%; Loeys-Dietz = 40.8 ± 11.2%; Marfan = 75.5 ± 2.7%; heritable non-syndromal aortopathy = 63.8 ± 4.7% (p < 0.001). At 20 years follow-up mean survival free of surgery was: aneurysm-osteoarthritis = 26.6 ± 14.7%; Loeys-Dietz = 9.1 ± 8.2%; Marfan = 57.2 ± 3.4%; heritable non-syndromal aortopathy = 41.6 ± 8.2% (p < 0.001). Diagnosis of newer syndromic and non-syndromal heritable aortopathies is delayed compared to MFS, with associated complications of presentation with aortic dissection. Survival of individuals enrolled in follow-up surveillance is comparable between different genetic aortopathies, however aortic dissections still occur and need for surgical intervention is high.

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Adriaans, B. P., M. J. F. G. Ramaekers, S. Heuts, H. J. G. M. Crijns, S. C. A. M. Bekkers, J. J. M. Westenberg, H. J. Lamb, J. E. Wildberger, and S. Schalla. "Determining the optimal interval for imaging surveillance of ascending aortic aneurysms." Netherlands Heart Journal, April 13, 2021. http://dx.doi.org/10.1007/s12471-021-01564-9.

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Abstract Background Cardiovascular guidelines recommend (bi-)annual computed tomography (CT) or magnetic resonance imaging (MRI) for surveillance of the diameter of thoracic aortic aneurysms (TAAs). However, no previous study has demonstrated the necessity for this approach. The current study aims to provide patient-specific intervals for imaging follow-up of non-syndromic TAAs. Methods A total of 332 patients with non-syndromic ascending aortic aneurysms were followed over a median period of 6.7 years. Diameters were assessed using all available imaging techniques (echocardiography, CT and MRI). Growth rates were calculated from the differences between the first and last examinations. The diagnostic accuracy of follow-up protocols was calculated as the percentage of subjects requiring pre-emptive surgery in whom timely identification would have occurred. Results The mean growth rate in our population was 0.2 ± 0.4 mm/year. The highest recorded growth rate was 2.0 mm/year, while 40.6% of patients showed no diameter expansion during follow-up. Females exhibited significantly higher growth rates than men (0.3 ± 0.5 vs 0.2 ± 0.4 mm/year, p = 0.007). Conversely, a bicuspid aortic valve was not associated with more rapid aortic growth. The optimal imaging protocol comprises triennial imaging of aneurysms 40–49 mm in diameter and yearly imaging of those measuring 50–54 mm. This strategy is as accurate as annual follow-up, but reduces the number of imaging examinations by 29.9%. Conclusions In our population of patients with non-syndromic TAAs, we found aneurysm growth rates to be lower than those previously reported. Yearly imaging does not lead to changes in the management of small aneurysms. Thus, lower imaging frequencies might be a good alternative approach.

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Seim, Bjørn Edvard, Margrethe Flesvig Holt, Aleksandra Ratajska, Annika Michelsen, Monica Myklebust Ringseth, Bente Evy Halvorsen, Mona Skjelland, et al. "Markers of extracellular matrix remodeling and systemic inflammation in patients with heritable thoracic aortic diseases." Frontiers in Cardiovascular Medicine 9 (December 20, 2022). http://dx.doi.org/10.3389/fcvm.2022.1073069.

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BackgroundIn approximately 20% of patients with thoracic aortic aneurysms or dissections a heritable thoracic aortic disease (HTAD) is suspected. Several monogenic connective tissue diseases imply high risk of aortic disease, including both non-syndromic and syndromic forms. There are some studies assessing inflammation and extracellular matrix remodeling in patients with non-hereditary aortic disease, but such studies in patients with hereditary diseases are scarce.AimsTo quantify markers of extracellular matrix (ECM) and inflammation in patients with vascular connective tissue diseases versus healthy controls.MethodsPatients with Loeys-Dietz syndrome (LDS, n = 12), Marfan syndrome (MFS, n = 11), and familial thoracic aortic aneurysm 6 (FTAA6, n = 9), i.e., actin alpha 2 (ACTA2) pathogenic variants, were recruited. Exome or genome sequencing was performed for genetic diagnosis. Several markers of inflammation and ECM remodeling were measured in plasma by enzyme immunoassays. Flow cytometry of T-cell subpopulations was performed on a subgroup of patients. For comparison, blood samples were drawn from 14 healthy controls.Results(i) All groups of HTAD patients had increased levels matrix metalloproteinase-9 (MMP-9) as compared with healthy controls, also in adjusted analyses, reflecting altered ECM remodeling. (ii) LDS patients had increased levels of pentraxin 3 (PTX3), reflecting systemic inflammation. (iii) LDS patients have increased levels of soluble CD25, a marker of T-cell activation.ConclusionOur data suggest that upregulated MMP-9, a matrix degrading enzyme, is a common feature of several subgroups of HTAD. In addition, LDS patients have increased levels of PTX3 reflecting systemic and in particular vascular inflammation.

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Li, J., B. Wu, Y. Wang, Y. P. Sun, D. Liu, J. Zhai, H. Lai, Y. X. Sun, and C. Wang. "P6499Genetic screening in 109 adult Chinese patients with thoracic aortic aneurysm and dissection." European Heart Journal 40, Supplement_1 (October 1, 2019). http://dx.doi.org/10.1093/eurheartj/ehz746.1089.

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Abstract Background Thoracic aortic aneurysm and dissection (TAAD) comprises a heterogenous group of cardiovascular urgencies, which could be further categorized into syndromic and non-syndromic entities. The accurate and timely identification of culprit genetic variants is of grave importance for TAAD patients, since different genetic defects have been associated with different risks for aortic dissection, thus different thresholds for preventive aortic intervention. Purpose With the advent of next-generation sequencing (NGS) techniques, accumulating records of rare variants have been found in TAAD patients, while inadequate functional validation also makes it difficult to give proper counsel for individual TAAD patients. Therefore, it is necessary for us to start re-evaluating clinical applications of genetic screening strategies in specific patient populations. Methods From June 2016 to July 2017, genetic screening using an NGS-based panel of 18 candidate genes (FBN1, FBN2, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD3, COL1A1, COL3A1, COL5A2, COL5A1, PLOD1, ACTA2, MYH11, MYLK, PRKG1, MFAP5, and SKI) was applied in 109 adult TAAD patients from our institution. Patients with bicuspid aortic valve disease, complex congenital cardiac defect, aortic root infection, aortitis, pregnancy, and an age older than 70 years were excluded from the present study. Results Among 109 TAAD patients, 36 harboured an FBN1 variant, including 2 splicing site, 6 frame shift, 5 non-sense, and 23 mis-sense variants. The pathogenicity of mis-sense variants was further categorized into 10 disease-causing variants via database survey, 5 disease-causing variants via family survey, and 8 variants of uncertain significance (VUS). On the other hand, 25 patients harboured a non-FBN1 variant, including 3 established pathogenic variants on TGFBR1, TGFB2, and ACTA2 genes, as well as 22 VUS. Patients with an FBN1 variant displayed younger age, lower rate of hypertension, higher rate of aortic root aneurysm, and more frequent mitral valve prolapse, while an extreme male predominance (24/25) was observed in patients with a non-FBN1 variant. Conclusion In an adult Chinese TAAD cohort, disease-causing genetic variants were found in 28.4% (31/109) of patients, with FBN1 mutations still being the single leading cause of disease. The present study advocated a genetic screening strategy emphasizing the detection of FBN1 mutations in adult Chinese TAAD patients, and further studies should address the pathogenicity and clinical relevance of non-FBN1 VUS in TAAD patients.

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Papakonstantinou, Nikolaos A., and Filippos-Paschalis Rorris. "Elective replacement of the ascending aorta: is the 5.5-cm threshold appropriate? The insidious, small aorta." European Journal of Cardio-Thoracic Surgery, November 23, 2020. http://dx.doi.org/10.1093/ejcts/ezaa387.

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Summary OBJECTIVES As thoracic aortic aneurysm disease continues to cause significant morbidity and mortality in the general population, the cardiovascular community continues the search for the golden threshold of elective surgical replacement of the ascending aorta. METHODS Thoracic aortic aneurysm is a common disease, classified within the 20 most common causes of death in patients over 65 years old. Once aortic complications like dissection or rupture occur, they can prove fatal. Prophylactic surgical replacement of the ascending aorta remains the mainstay of treatment to prevent these complications. Current American and European guidelines agree that the threshold for the diameter for elective replacement of the ascending aorta in non-syndromic, asymptomatic aneurysmal disease is 5.5 cm. Overall, aortic dissection is related to poor prognosis, thus making early intervention paramount. RESULTS There is a critical size above which the risk of dissection or rupture becomes extremely high. However, a significant post-dissection increase in diameter is reported, thus rendering the predissection aortic diameter well below the current threshold for elective surgical replacement of the ascending aorta. Moreover, it is widely reported that the majority of acute aortic dissections would not meet the criteria for prophylactic surgery prior to dissection. Additionally, elective surgical ascending aortic replacement in the current era shows a significantly improved risk-benefit ratio, which justifies a more aggressive approach in the management of aortic aneurysmal disease. CONCLUSIONS As a result, there is a lot of discussion in the literature about the requirement of a leftward shifting of the surgical threshold for elective aortic replacement.

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McEntire, Alexis, Benjamin M. Helm, Benjamin J. Landis, Lindsey R. Elmore, Theodore Wilson, Leah Wetherill, and Stephanie M. Ware. "Psychological distress in response to physical activity restrictions in patients with non-syndromic thoracic aortic aneurysm/dissection." Journal of Community Genetics, August 13, 2021. http://dx.doi.org/10.1007/s12687-021-00545-0.

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van de Laar, Ingrid M. B. H., Eloisa Arbustini, Bart Loeys, Erik Björck, Lise Murphy, Maarten Groenink, Marlies Kempers, et al. "European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants." Orphanet Journal of Rare Diseases 14, no. 1 (November 21, 2019). http://dx.doi.org/10.1186/s13023-019-1186-2.

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AbstractThe ACTA2 gene encodes for smooth muscle specific α-actin, a critical component of the contractile apparatus of the vascular smooth muscle cell. Pathogenic variants in the ACTA2 gene are the most frequently encountered genetic cause of non-syndromic hereditary thoracic aortic disease (HTAD). Although thoracic aortic aneurysm and/or dissection is the main clinical manifestation, a variety of occlusive vascular disease and extravascular manifestations occur in ACTA2-related vasculopathy. Current data suggest possible mutation-specific manifestations of vascular and extra-aortic traits.Despite its relatively high prevalence, comprehensive recommendations on the care of patients and families with pathogenic variants in ACTA2 have not yet been established. We aimed to develop a consensus document to provide medical guidance for health care professionals involved in the diagnosis and treatment of patients and relatives with pathogenic variants in ACTA2.The HTAD Working Group of the European Reference Network for Rare Vascular Diseases (VASCERN) convened to review current literature and discuss expert opinions on clinical management of ACTA2 related vasculopathy. This consensus statement summarizes our recommendations on diagnosis, monitoring, treatment, pregnancy, genetic counselling and testing in patients with ACTA2-related vasculopathy. However, there is a clear need for additional prospective multicenter studies to further define proper guidelines.

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Hemsinli, Dogus, Hatice Korkmaz, Gaye Baki, Erkan Vuralkan, Safiye Kaplan, Selim Kul, and Inan Turkmen. "The role of vascular elastography and carotid artery intima media thickness methods in the determination of non-syndromic ascending thoracic aortic aneurysm." Journal of Turgut Ozal Medical Center, 2017, 1. http://dx.doi.org/10.5455/jtomc.2017.08.117.

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Hiratzka, Loren, Tiffany Hanlon, and Katherine Vorpe. "Ascending Aortic Aneurysms < 4.5 cm for Non-syndromic Adults: Very Slow Growth and Low Risk." AORTA, December 20, 2022. http://dx.doi.org/10.1055/a-2000-7812.

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Background Current practice guidelines for patients with thoracic aortic aneurysms (TAAs) recommend 6-12-month intervals for surveillance imaging based on growth estimates of 0.10 - 0.42 cm/year gleaned from limited studies which included patients with thoraco-abdominal aneurysms, known acute or chronic aortic dissection, and other syndromic and non-syndromic high risk conditions (TAA-HRC) associated with high-risk for adverse aortic events and death. Objective: Our objective was to determine TAA growth and event-free survival rates for patients with aortic root or mid-ascending diameters <5.0 cm, and without thoraco-abdominal aneurysms, acute or chronic aortic dissection or higher risk syndromic or non-syndromic conditions (TAA-NoHRC). Materials and Methods A retrospective review of patient records and imaging studies was done. Aortic diameter measurements were all performed by the lead author. Results For 197 TAA-NoHRC found incidentally during chest imaging, with 616 chest imaging studies over 868 patient-years, the mean aortic root and mid-ascending aortic growth rates were 0.018 and 0.022 cm/year respectively. Growth rate was significantly lower for aneurysms initially measured at <4.5 cm versus > 4.5 cm at both the aortic root (0.011 vs 0.068 cm/year) and mid-ascending aorta (0.013 vs 0.043 cm/year). Survival free from adverse aortic events (dissection, rupture, surgery) or death at 5 years was 99.5%. Conclusions Adult TAA-NoHRC patients with initial aortic root and/or ascending aortic diameters <5.0 cm, and particularly <4.5 cm, have very low aortic growth and adverse event rates which may permit longer intervals between surveillance imaging, up to 3-5 years, after initial (6-12 month) stability is documented.

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Keramati, Ali R., Anita Sadeghpour, Maryam M. Farahani, Gurangad Chandok, and Arya Mani. "The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus." BMC Medical Genetics 11, no. 1 (October 11, 2010). http://dx.doi.org/10.1186/1471-2350-11-143.

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Grewal, Nimrat, Onur Dolmaci, Evert Jansen, Robert Klautz, Antoine Driessen, and Robert E. Poelmann. "Thoracic aortopathy in Marfan syndrome overlaps with mechanisms seen in bicuspid aortic valve disease." Frontiers in Cardiovascular Medicine 10 (February 9, 2023). http://dx.doi.org/10.3389/fcvm.2023.1018167.

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BackgroundThoracic aortopathy is a serious complication which is more often seen in patients with Marfan syndrome (MFS) and patients with a bicuspid aortic valve (BAV) than in individuals with a tricuspid aortic valve (TAV). The identification of common pathological mechanisms leading to aortic complications in non-syndromic and syndromic diseases would significantly improve the field of personalized medicine.ObjectiveThis study sought to compare thoracic aortopathy between MFS, BAV, and TAV individuals.Materials and methodsBicuspid aortic valve (BAV; n = 36), TAV (n = 23), and MFS (n = 8) patients were included. Ascending aortic wall specimen were studied for general histologic features, apoptosis, markers of cardiovascular ageing, expression of synthetic and contractile vascular smooth muscle cells (VSMC), and fibrillin-1 expression.ResultsThe MFS group showed many similarities with the dilated BAV. Both patient groups showed a thinner intima (p < 0.0005), a lower expression of contractile VSMCs (p < 0.05), more elastic fiber thinning (p < 0.001), lack of inflammation (p < 0.001), and a decreased progerin expression (p < 0.05) as compared to the TAV. Other features of cardiovascular ageing differed between the BAV and MFS. Dilated BAV patients demonstrated less medial degeneration (p < 0.0001), VSMC nuclei loss (p < 0.0001), apoptosis of the vessel wall (p < 0.03), and elastic fiber fragmentation and disorganization (p < 0.001), as compared to the MFS and dilated TAV.ConclusionThis study showed important similarities in the pathogenesis of thoracic aortic aneurysms in BAV and MFS. These common mechanisms can be further investigated to personalize treatment strategies in non-syndromic and syndromic conditions.

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Salmasi, M. Yousuf, Deborah Morris-Rosendahl, Omar A. Jarral, Ulrich Rosendahl, George Asimakopoulos, Shahzad Raja, Jose Antonio Aragon-Martin, et al. "Determining the genetic contribution in patients with non-syndromic ascending thoracic aortic aneurysms: Correlation with findings from computational pathology." International Journal of Cardiology, July 2022. http://dx.doi.org/10.1016/j.ijcard.2022.07.010.

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