Judith M A Verhagen1, Marlies Kempers2, Luc Cozijnsen3, Berto J Bouma4, Anthonie L Duijnhouwer5, Jan G Post6, Yvonne Hilhorst-Hofstee7, Sebastiaan C A M Bekkers8, Wilhelmina S Kerstjens-Frederikse9, Thomas J van Brakel10, Eric Lambermon11, Marja W Wessels1, Bart L Loeys12, Jolien W Roos-Hesselink13, Ingrid M B H van de Laar14. 1. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. 2. Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands. 3. Department of Cardiology, Gelre Hospital, Apeldoorn, The Netherlands. 4. Department of Cardiology, Academic Medical Center, Amsterdam, The Netherlands. 5. Department of Cardiology, Radboud University Medical Center, The Netherlands. 6. Department of Clinical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands. 7. Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. 8. Department of Cardiology, Maastricht University Medical Center, Maastricht, The Netherlands. 9. Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. 10. Department of Cardiothoracic Surgery, Leiden University Medical Center, Leiden, The Netherlands. 11. Dutch General Practitioners' Expert Group on Cardiovascular Diseases. 12. Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Center of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium. 13. Department of Cardiology, Erasmus University Medical Center, Rotterdam, The Netherlands. 14. Department of Clinical Genetics, Erasmus University Medical Center, Rotterdam, The Netherlands. Electronic address: i.vandelaar@erasmusmc.nl.
Abstract
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
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Authors: Changjiang Yu; Ying Li; Abuduresuli Adilijang; Jizhong Yan; Arkin Guzalnur; Abudula Abudushalamu; Yimamu Aimirela; Ruixin Fan Journal: Nan Fang Yi Ke Da Xue Xue Bao Date: 2020-11-30
Authors: David R Murdock; Eric Venner; Donna M Muzny; Ginger A Metcalf; Mullai Murugan; Trevor D Hadley; Varuna Chander; Paul S de Vries; Xiaoming Jia; Aliza Hussain; Ali M Agha; Aniko Sabo; Shoudong Li; Qingchang Meng; Jianhong Hu; Xia Tian; Michelle Cohen; Victoria Yi; Christie L Kovar; Marie-Claude Gingras; Viktoriya Korchina; Chad Howard; Daniel L Riconda; Stacey Pereira; Hadley S Smith; Zohra A Huda; Alexandria Buentello; Patricia R Marino; Lee Leiber; Ashok Balasubramanyam; Christopher I Amos; Andrew B Civitello; Mihail G Chelu; Ronald Maag; Amy L McGuire; Eric Boerwinkle; Xander H T Wehrens; Christie M Ballantyne; Richard A Gibbs Journal: Genet Med Date: 2021-08-06 Impact factor: 8.864