Actual Management of Patients with Familial Ascending Aortic Aneurysms and Type-A Aortic Dissections

Weigang, Ernst; Chang, Xu; Munk-Schulenburg, S.; Richter, H. A.; Samson, Patrick von; Goebel, Heike; Frydrychowicz, Alex; Geibel, Annette; Ammann, S.; Schwering, L.; Brunner, T.; Severin, Thomas; Czerny, Martin; Beyersdorf, Friedhelm

doi:10.1055/s-2006-924575

Cited by 7 publications

(5 citation statements)

References 10 publications

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“…Our results also suggest that genetic testing and cardiac imaging with at least TTE should be offered to all FDRs and SDRs of patients with suspected NS‐TADs. Mutation carriers should undergo further imaging (MRI or CT scan), focusing on thoracic aorta and/or other arterial trees based on the causative gene mutation 22, 23, 24, 25, 26, 27, 28, 29, 30, 31, 32, 33, 34, 35, 36, 37, 38, 39, 40, 41, 42, 43, 44, 45, 46, 47, 48, 49, 50, 51, 52, 53, 54, 55, 56, 57, 58, 59, 60, 61, 62, 63, 64, 65, 66, 67, 68, 69, 70, 71, 72, 73, 74. For example, ACTA2‐mutation carriers should be monitored for coronary artery disease and occlusive cerebrovascular disease, in addition to the currently recommended routine imaging tests 32.…”

Section: Discussionmentioning

confidence: 99%

“…First, variable penetrance, which often characterizes NS‐TAD forms, is a potential confounder. This results in intrafamilial variability, which is evident not only with reference to the aortopathy itself (severity, age of onset), but also with regard to other phenotypic manifestations 65, 66, 67, 68, 69, 70, 71, 72, 73, 74, 75, 76, 77, 78, 79, 80, 81. The presence of associated features is certainly suggestive of having inherited the aortic condition along with the predisposition to the aortopathy, but the absence of these associated features does not eliminate the risk of having an underlying aortopathy.…”

Section: Discussionmentioning

confidence: 99%

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Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

Mariscalco

Debiec

Elefteriades

et al. 2018

JAHA

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BackgroundNonsyndromic thoracic aortic diseases (NS‐TADs) are often silent entities until they present as life‐threatening emergencies. Despite familial inheritance being common, screening is not the current standard of care in NS‐TADs. We sought to determine the incidence of aortic diseases, the predictive accuracy of available screening tests, and the effectiveness of screening programs in relatives of patients affected by NS‐TADs.Methods and ResultsA systematic literature search on PubMed/MEDLINE, Embase, and the Cochrane Library was conducted from inception to the end of December 2017. The search was supplemented with the Online Mendelian Inheritance in Man database. A total of 53 studies were included, and a total of 2696 NS‐TAD relatives were screened. Screening was genetic in 49% of studies, followed by imaging techniques in 11% and a combination of the 2 in 40%. Newly affected individuals were identified in 33%, 24%, and 15% of first‐, second‐, and third‐degree relatives, respectively. Familial NS‐TADs were primarily attributed to single‐gene mutations, expressed in an autosomal dominant pattern with incomplete penetrance. Specific gene mutations were observed in 25% of the screened families. Disease subtype and genetic mutations stratified patients with respect to age of presentation, aneurysmal location, and aortic diameter before dissection. Relatives of patients with sporadic NS‐TADs were also found to be affected. No studies evaluated the predictive accuracy of imaging or genetic screening tests, or the clinical or cost‐effectiveness of an NS‐TAD screening program.ConclusionsFirst‐ and second‐degree relatives of patients affected by both familial and sporadic NS‐TADs may benefit from personalized screening programs.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

Mariscalco

Debiec

Elefteriades

et al. 2018

JAHA

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“…30 years [7]. Risk factors for aorta dissection include Ehlers-Danlos syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm syndrome, Shprintzen-Goldberg syndrome, hypertension, male sex, non-white race, bicuspid aortic valve, coarctation of the aorta, and the use of drugs including methamphetamine and cocaine [8,9,10]. The Stanford classification and the DeBakey classification are used to separate aortic dissections into those that need surgical repair, and those that usually require only medical management.…”

Section: Discussionmentioning

confidence: 99%

Bloodless Aortic and Coronary Artery Dissection: A Case Report

Eren¹,

İnanır

Eren

et al. 2019

Galician med. j.

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Aortic dissection is the most common catastrophic event affecting the aorta, which is characterized by complex clinical manifestations, and high missed and delayed diagnosis rate. Acute aortic dissection has the importance of medical emergency and is associated with a high mortality. The presented case was, 55 year-old-man who was found as dead in the shed. At autopsy on internal inspection; heart examination revealed dissection 1 cm above aortic valve surrounding full thickness and intact adventitia, also hematoma making pressure on the descending branch of left coronary artery after 1 cm from proximal resulting from dissection and full- thickness dissection in the origin of the right coronary artery and intact adventitia were observed. We aimed to discuss this interesting aortic dissection case in the aspects of medico legal literature.

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“…Jatrogena aortna disekcija nastaje obično kao rezultat invazivnih dijagnostičkih procedura ili posle hirurških intervencija (4). Najvažnija urođena oboljenja vezivnog tkiva koja zahvataju ujedno zid aorte i mogu dovesti do disekcije su Marfanov i Ehler-Danlosov sindrom, zajedno sa familijarnim tipovima aneurizmi i disekcija torakalne aorte (5).…”

Section: Rezultati Dominantni Simptomi Kod Većine Bolesnika Bili Su unclassified

Analysis of mortality in patients with early diagnosis of acute aortic dissection

Nikolić¹,

Radovanović²,

Radovanovic³

et al. 2013

Medicinski casopis

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UVODAkutna disekcija aorte podrazumeva raslojavanje aortnog zida koje počinje laceracijom intime sa širenjem u mediju (unutrašnje cepanje) i posledičnim raslojavanjem zida (1). U većini slučajeva unutrašnji slojevi se cepaju u pravcu kretanja krvi. Na taj način nastaje lažni lumen, koji je odvojen od pravog tzv. disekcionom membranom. Dva lumena i disekciona membrana se često pružaju spiralno u kraniokaudalnom pravcu, u skladu sa protokom krvi kroz aortu (2).

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Actual Management of Patients with Familial Ascending Aortic Aneurysms and Type-A Aortic Dissections

Cited by 7 publications

References 10 publications

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease

Bloodless Aortic and Coronary Artery Dissection: A Case Report

Analysis of mortality in patients with early diagnosis of acute aortic dissection

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