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Title: Systematic review of studies that have evaluated screening tests in relatives of patients affected by nonsyndromic thoracic aortic disease
Authors: Mariscalco, Giovanni
Debiec, Radoslaw
Elefteriades, John A.
Samani, Nilesh J.
Murphy, Gavin J.
First Published: 31-Jul-2018
Publisher: Wiley Open Access, American Heart Association: JAHA, American Stroke Association [
Citation: Journal of the American Heart Association, 2018, 7 (15):e009302
Abstract: Background Nonsyndromic 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 Results A 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. Conclusions First‐ and second‐degree relatives of patients affected by both familial and sporadic NS‐TADs may benefit from personalized screening programs.
DOI Link: 10.1161/JAHA.118.009302
eISSN: 2047-9980
Version: Publisher Version
Status: Peer-reviewed
Type: Journal Article
Rights: Copyright © the authors, 2018. This is an open-access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
Description: Accompanying Data S1, Tables S1 through S11, and Figures S1 and S2 are available at
Appears in Collections:Published Articles, Dept. of Cardiovascular Sciences

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