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

Overview of attention for article published in International Journal of Cardiology, May 2018
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Title
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
Published in
International Journal of Cardiology, May 2018
DOI 10.1016/j.ijcard.2018.01.145
Pubmed ID
Authors

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

Abstract

Thoracic aortic aneurysm (TAA) is a potentially life-threatening disorder with a strong genetic component. The number of genes implicated in TAA has increased exponentially over the last decade. Approximately 20% of patients with TAA have a positive family history. As most TAA remain asymptomatic for a long time, screening of at risk relatives is warranted to prevent complications. Existing international guidelines lack detailed instructions regarding genetic evaluation and family screening of TAA patients. We aimed to develop a consensus document to provide medical guidance for all health care professionals involved in the recognition, diagnosis and treatment of patients with thoracic aortic disease and their relatives. A multidisciplinary panel of experts including cardiologists, cardiothoracic surgeons, clinical geneticists and general practitioners, convened to review and discuss the current literature, guidelines and clinical practice on genetic testing and family screening in TAA. There is a lack of high-quality evidence in the literature. This consensus statement, based on the available literature and expert opinions, summarizes our recommendations in order to standardize and optimize the cardiogenetic care for patients and families with thoracic aortic disease. In particular, we provide criteria to identify those patients most likely to have a genetic predisposition, and discuss the preferred modality and frequency of screening in their relatives. 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.

Twitter Demographics

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Mendeley readers

The data shown below were compiled from readership statistics for 49 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Unknown 49 100%

Demographic breakdown

Readers by professional status Count As %
Student > Postgraduate 7 14%
Other 7 14%
Student > Bachelor 6 12%
Researcher 6 12%
Student > Doctoral Student 2 4%
Other 8 16%
Unknown 13 27%
Readers by discipline Count As %
Medicine and Dentistry 24 49%
Biochemistry, Genetics and Molecular Biology 3 6%
Agricultural and Biological Sciences 3 6%
Nursing and Health Professions 1 2%
Psychology 1 2%
Other 1 2%
Unknown 16 33%

Attention Score in Context

This research output has an Altmetric Attention Score of 1. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 28 March 2018.
All research outputs
#11,553,296
of 14,574,779 outputs
Outputs from International Journal of Cardiology
#3,586
of 5,926 outputs
Outputs of similar age
#206,354
of 274,890 outputs
Outputs of similar age from International Journal of Cardiology
#83
of 145 outputs
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