Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

Verhagen, Judith M.A.; Kempers, Marlies; Cozijnsen, Luc; Bouma, Berto J.; Duijnhouwer, Anthonie L.; Post, Jan G.; Hilhorst‐Hofstee, Yvonne; Bekkers, Sebastiaan C.A.M.; Kerstjens-Frederikse, Wilhelmina S.; Brakel, Thomas J. van; Lambermon, Eric; Wessels, Marja W.; Loeys, Bart; Roos‐Hesselink, Jolien W.; Laar, Ingrid M.B.H. van de

doi:10.1016/j.ijcard.2018.01.145

Cited by 64 publications

(50 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…20 In patients with suspected MFS, the revised Ghent criteria should be employed as a high pre-test probability of disease confers 66-91% odds of finding an FBN-1 mutation and targeted FBN-1 testing should be pursued. 68 Tables 3 and 4 list the revised Ghent criteria. 69 However, if other familial TAAs are suspected, then the European Society of Human Genetics recommends testing for the following 'core genes': ACTA2, COL3A1, FBN-1, FLNA, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, TGF-β2, TGF-β3, TGF-βR1 and TGF-βR2.…”

Section: An Approach To Diagnosismentioning

confidence: 99%

Diagnostic approach and management of genetic aortopathies

2020

View full text Add to dashboard Cite

Aortic aneurysms were the primary cause of nearly 10,000 deaths in 2014 according to data from the Centers for Disease Control and may involve segments of the thoracic or abdominal aorta. Thoracic aortic aneurysms and dissections are more commonly associated with an underlying genetic etiology. In the past several decades, in parallel with the burst of new genome sequencing technologies, a number of genetic aortopathies have been identified. These have provided important insights into the molecular mechanisms of aneurysmal disease, but pose challenges in clinical practice as there are limited consensus recommendations at this time. In this review, we aim to address the pathophysiology, clinical presentation, and treatment considerations in the key heritable thoracic aortopathies.

show abstract

Section: An Approach To Diagnosismentioning

confidence: 99%

Diagnostic approach and management of genetic aortopathies

2020

View full text Add to dashboard Cite

show abstract

“…First-degree relatives (parents, brothers, sisters, and children) of patients with TAA should be screened because family studies have found an approximately 20% chance of another first-degree relative having a TAA. 3 Therefore, even if genetic testing does not reveal an identifiable mutation, first-degree relatives should have their aorta checked. An echocardiogram is usually recommended, especially in relatives of patients with Marfan syndrome or bicuspid aortic valve.…”

Section: Is Taa Inherited? What About Genetic Testing?mentioning

confidence: 99%

Thoracic aortic aneurysm

2018

View full text Add to dashboard Cite

show abstract

“…An important note regarding this definition of aortic dilatation is that this threshold is derived from cohort data of relatively young individuals with an age range from 9 to 59 years 5. Hence, this threshold of 40 mm6 may not be directly applicable to older individuals, especially given increasing evidence suggesting that aortic diameters change with age 7–9. Together with the finding that aortic complications mostly occur at older age,10 this emphasizes the need for data on the distribution of aortic diameters among older persons 11…”

Section: Introductionmentioning

confidence: 99%

Sex-specific distributions and determinants of thoracic aortic diameters in the elderly

Bons

Rueda‐Ochoa

Ghoul

et al. 2019

Heart

Self Cite

View full text Add to dashboard Cite

ObjectiveTo provide population-based distributions of thoracic aortic diameters in men and women aged 55 years or older and to identify determinants of thoracic aortic diameters.MethodsFrom 2003 to 2006, 2505 participants (1208 men, mean age 69.1±6.8 years) from the prospective population-based Rotterdam Study underwent non-enhanced cardiac CT. The diameter of the ascending (AA) and descending aorta (DA) was measured at the level of the pulmonary bifurcation.ResultsThe mean diameter of the ascending and descending aorta was substantially larger in men (38±4 mm and 30±2 mm) than in women (35±3 mm and 27±2 mm). An ascending aortic diameter of larger than 40 mm was found in 228 (18.9%) men and 76 (5.9%) women and a descending aortic diameter larger than 40 mm was found in two men and no women. Male sex was found to be independently associated with larger DA diameter (standardised β 0.24, 95% CI 0.19 to 0.30), while a statistically non-significant trend was found for the AA diameter (standardised β 0.06, 95% CI 0.00 to 0.12). Age, height, weight and traditional cardiovascular risk factors were also associated with larger AA and/or DA diameters. Diabetes was associated with smaller AA and DA diameters. We found no evidence for effect modification by sex.ConclusionsIn persons aged 55 years or older, an ascending aortic diameter of 40 mm or larger was found in 18.9% of men and 5.9% of women. Given the importance of sex, sex-specific distribution values may prove useful in clinical practice, even when correcting for body surface area or height.

show abstract

Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives

Abstract: Age, family history, aortic size and syndromic features determine who is advised to have genetic testing as well as screening of first-degree relatives. There is a need for more prospective multicenter studies to optimize current recommendations.

Cited by 64 publications

References 41 publications

Diagnostic approach and management of genetic aortopathies

Diagnostic approach and management of genetic aortopathies

Thoracic aortic aneurysm

Sex-specific distributions and determinants of thoracic aortic diameters in the elderly

Contact Info

Product

Resources

About