Practical Genetics of Thoracic Aortic Aneurysm

Elefteriades, John A.; Pomianowski, Pawel

doi:10.1016/j.pcad.2013.06.002

Cited by 40 publications

(43 citation statements)

References 13 publications

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“…Familial TAAD can be subdivided into syndromic presentations that show prominent features of a systemic connective tissue disorder (such as Marfan, Loeys-Dietz and Ehlers-Danlos syndrome) and nonsyndromic presentations (such as bicommissural aortic valve with TAA, and isolated familial TAA). Seven susceptibility loci have been associated with TAA syndromic and non-syndromic forms (see Table 3) [12][13][14][15][16]. Related-genes have revealed that perturbed extracellular matrix signaling cascade interactions, deficient intracellular components of the smooth muscle contractile apparatus and deregulation of transforming growth factor-β cytokine (TGF-β) pathway are the key TAA mechanisms (see Table 3) [2,[17][18][19][20].…”

Section: Introductionmentioning

confidence: 99%

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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: Introductionmentioning

confidence: 99%

“…Pathogenesis of familial TAA forms is, indeed, today better understood. As result, the management strategies for the medical and surgical treatment of familial TAAs are becoming increasingly gene-tailored [4,15]. In addition, these pathogenetic insights have delivered new treatment options (i.e.…”

Section: Introductionmentioning

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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“…1,2 Several risk factors such as smoking, hypertension, atherosclerosis and diabetes that induce these histopathological changes may predispose to the progression of aneurysmal dilatation and dissection. [1][2][3] Furthermore, a proportion of TAD cases are closely related to inherited diseases such as bicuspid aortic valve, Marfan syndrome and Loeys-Dietz syndrome; 1,2,4 however, genetic propensity associated with non-syndromic TAD and TAA remains largely unknown.…”

Section: Introductionmentioning

confidence: 99%

Novel findings: Expression of angiotensin-converting enzyme and angiotensin-converting enzyme 2 in thoracic aortic dissection and aneurysm

Qian

et al. 2014

J Renin Angiotensin Aldosterone Syst

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Introduction: Angiotensin-converting enzyme (ACE) and ACE2 are key regulators of the renin–angiotensin system, which has been shown to participate in a series of cardiovascular diseases. We hypothesized that dysregulated gene expression of ACE and ACE2 contribute to the formation of thoracic aortic dissection and aneurysm. Materials and methods: We assessed ACE plasma concentration in 73 patients with acute thoracic aortic dissection (n=34), aneurysm (n=18), coronary heart disease (n=21) and 13 healthy volunteers. ACE and ACE2 gene expression in available aortic tissues was also examined by using quantitative real-time polymerase chain reaction. Results: In patients with acute aortic dissection, ACE plasma concentration and its mRNA level in aortic tissue were markedly reduced compared with those in patients with aneurysm, coronary heart disease and healthy controls. The level of ACE2 gene expression in dissection samples was also significantly lower than that in aneurysm (8.01±7.44, p<0.01) and coronary heart disease groups (9.61±11.54, p<0.01). A strong correlation was observed between the gene expressions of ACE and those of ACE2, and ACE to ACE2 ratio was significantly elevated in dissection tissues. Conclusions: Imbalanced down-regulation of ACE and ACE2 mRNA expression levels may play an important role in the development and progression of thoracic aortic aneurysmal dilatation and subsequently dissection.

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Section: Inngangurunclassified

“…Í heildina eru aettgengir ósaeðargúlpar taldir skýra um 20% sjúkdómstilfella. [6][7][8] Algengustu einkenni ósaeðargúlps eru brjóst-eða bakverkir og einkenni hjartabilunar þegar ósaeðarlokan er lek.9 Oftar en ekki eru sjúklingar þó án einnkenna og greinast fyrir tilviljun.Inngangur: Ósaeðargúlpur í brjóstholi er frekar sjaldgaefur sjúkdómur þar sem meðferð er flókin og fylgikvillar algengir. Tilgangur rannsóknarinnar var að kanna árangur skurðaðgerða við ósaeðargúlpum á Íslandi með tilliti til snemmkominna fylgikvilla, 30 daga dánartíðni og langtímalifunar, en slík rannsókn hefur ekki verið gerð áður á Íslandi.…”

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Árangur aðgerða við ósæðargúlp í rishluta ósæðar á Íslandi 2000-2014

Brynjarsdóttir¹,

Melvinsdottir²,

Guðbjartsson³

et al. 2016

LBL

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Ósaeðargúlpur í brjóstholshluta ósaeðar (thoracic aortic aneurysm) er tiltölulega sjaldgaefur sjúkdómur þar sem þvermál ósaeðar er aukið um að minnsta kosti 50% miðað við eðlilega vídd ósaeðar.1 Ný-gengi samkvaemt erlendum rannsóknum er talið vera á bilinu 6-10 tilfelli/100.000/ári. Sú staðreynd að flestir sjúklingar eru einkennalausir gerir nákvaemt mat á nýgengi erfiðara.2 Orsök gúlpmynd-unar í ósaeð er ekki að fullu þekkt en hrörnun á miðlagi hennar virðist vega þungt í sjúkdómsferlinu. Ójafnvaegi á myndun og niðurbroti millifrumuefnis veikir miðlag aeðaveggsins sem veldur þenslu og gúlpmyndun.3,4 Bandvefssjúkdómar eins og heilkenni Marfans eða heilkenni Ehler Danlos og tvíblöðku-ósaeðarloka auka líkur á myndun ósaeðargúlps. Háþrýstingur er einnig þekkt-ur áhaettuþáttur.5 Erfðarannsóknir hafa leitt í ljós ýmis tengsl við ósaeðargúlpa og lýst hefur verið stökkbreytingum sem koma fram í fjölskyldum. Í heildina eru aettgengir ósaeðargúlpar taldir skýra um 20% sjúkdómstilfella. [6][7][8] Algengustu einkenni ósaeðargúlps eru brjóst-eða bakverkir og einkenni hjartabilunar þegar ósaeðarlokan er lek.9 Oftar en ekki eru sjúklingar þó án einnkenna og greinast fyrir tilviljun.Inngangur: Ósaeðargúlpur í brjóstholi er frekar sjaldgaefur sjúkdómur þar sem meðferð er flókin og fylgikvillar algengir. Tilgangur rannsóknarinnar var að kanna árangur skurðaðgerða við ósaeðargúlpum á Íslandi með tilliti til snemmkominna fylgikvilla, 30 daga dánartíðni og langtímalifunar, en slík rannsókn hefur ekki verið gerð áður á Íslandi. Efniviður og aðferðir: Afturskyggn rannsókn á 105 sjúklingum (meðal-aldur 60,7 ár, 69,5% karlar) sem gengust undir aðgerð vegna ósaeðar-gúlps í rishluta ósaeðar á Landspítala frá 1. janúar 2000 til 31. desember 2014. Sjúklingar með áverka á ósaeð eða bráða ósaeðarflysjun (acute aortic dissection) voru útilokaðir. Upplýsingar fengust úr sjúkraskrám og voru skráðar ýmsar klínískar breytur, aðgerðartengdir þaettir og fylgikvillar. Heildarlifun var reiknuð með aðferð Kaplan-Meier og var meðaleftir-fylgdartími 5,7 ár.Niðurstöður: Alls höfðu 52 sjúklingar (51,0%) tvíblöðku-ósaeðarloku og 10 (9,5%) höfðu fjölskyldusögu um ósaeðargúlp. Helmingur sjúklinga (50,5%) var einkennalaus. Algengasta tegund aðgerðar var ósaeðarrótarskipti með lífraenni loku. Tveir þriðju sjúklinga fengu fylgikvilla og voru þeir alvarlegir í 31,4% tilfella. Heilablóðfall greindist hjá tveimur sjúklingum (1,9%) en aðrir tveir sjúklingar létust innan 30 daga frá aðgerð (1,9%). Lifun einu ári frá aðgerð var 95,1%, og var lifun karla betri en kvenna (97,2% á móti 90,4%, p=0,0012, log-rank próf) en 5 ára lifun var 90,3%. Ályktanir: Árangur skurðaðgerða við ósaeðargúlp í rishluta ósaeðar á Íslandi er sambaerilegur við erlendar rannsóknir. Fylgikvillar eru tíðir þótt tíðni heilablóðfalls sé lág, eins og 30 daga dánartíðni. Langtímalifun er góð, en lifun karla er betri en kvenna.Árangur aðgerða við ósaeðargúlp í rishluta ósaeðar á Íslandi

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Practical Genetics of Thoracic Aortic Aneurysm

Cited by 40 publications

References 13 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

Novel findings: Expression of angiotensin-converting enzyme and angiotensin-converting enzyme 2 in thoracic aortic dissection and aneurysm

Árangur aðgerða við ósæðargúlp í rishluta ósæðar á Íslandi 2000-2014

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