Positive family history of aortic dissection dramatically increases dissection risk in family members

Ma, Wei-Guo; Chou, Alan S.; Mok, Salvior; Ziganshin, Bulat A.; Charilaou, Paris; Zafar, Mohammad A.; Sieller, Richard S.; Tranquilli, Maryann; Rizzo, John A.; Elefteriades, John A.

doi:10.1016/j.ijcard.2017.04.080

Cited by 35 publications

(27 citation statements)

References 37 publications

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“…Ma et al82 recently demonstrated that age at onset of aortic dissection is lower in families with a positive history for aortic dissection, therefore suggesting a prompt and more aggressive screening pathway in these families. A positive family history with an aortopathy occurring at younger ages confers a significantly increased risk of developing a new dissection in apparently unaffected family members 81. The above findings are all important in guiding the proper screening and surveillance strategies.…”

Section: Discussionmentioning

confidence: 98%

“…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%

“…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. Second, women often demonstrate a lower lifetime risk of aortopathy, developing the condition at a later age than men 81. This phenomenon, known as sexual dimorphism, explains the apparent paradox of an affected teenager with an affected maternal grandfather but an unaffected mother with normal echocardiographic features.…”

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: 98%

Section: Discussionmentioning

confidence: 99%

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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“…A positive familial history for TAAD impacts on all these aspects. 1,2,62 The estimated annual growth rate for TAA is, on average, 0.10 cm/year 63 with a faster growth rate for the descending thoracic aorta compared with the ascending (0.19 cm/year vs. 0.07 cm/year). 64 In FTAAD, the annual growth rate has been estimated to be 0.21 cm/year, 2 more than twice the rate of sporadic cases.…”

Section: Function Of the Proteinmentioning

confidence: 99%

“…65 Lastly, the annual risk of dissection for first degree relatives of patients with FTAA has been estimated to be 2.77 times higher than for relatives of patients with sporadic TAA. 62 Who should be offered genetic testing?…”

Section: Function Of the Proteinmentioning

confidence: 99%

The role of genetic testing in the prevention of acute aortic dissection

Carino

Agostinelli

Molardi

et al. 2018

Eur J Prev Cardiolog

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Although much has been learned about disease of the thoracic aorta, most diagnosis of thoracic aortic aneurysm (TAA) is still incidental. The importance of the genetic aspects in thoracic aortic disease is overwhelming, and today different mutations which cause TAA or alter its natural history have been discovered. Technological advance has made available testing which detects genetic mutations linked to TAA. This article analyses the genetic aspects of TAA and describes the possible role of genetic tests in the clinical setting in preventing devastating complications of TAA.

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Interdisciplinary German clinical practice guidelines on the management of type B aortic dissection

et al. 2023

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Positive family history of aortic dissection dramatically increases dissection risk in family members

Cited by 35 publications

References 37 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

The role of genetic testing in the prevention of acute aortic dissection

Interdisciplinary German clinical practice guidelines on the management of type B aortic dissection

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