TY - JOUR
T1 - Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives
AU - Verhagen, Judith M. A.
AU - Kempers, Marlies
AU - Cozijnsen, Luc
AU - Bouma, Berto J.
AU - Duijnhouwer, Anthonie L.
AU - Post, Jan G.
AU - Hilhorst-Hofstee, Yvonne
AU - Bekkers, Sebastiaan C. A. M.
AU - Kerstjens-Frederikse, Wilhelmina S.
AU - van Brakel, Thomas J.
AU - Lambermon, Eric
AU - Wessels, Marja W.
AU - Loeys, Bart L.
AU - Roos-Hesselink, Jolien W.
AU - van de Laar, Ingrid M. B. H.
AU - Natl Working Grp BAV TAA
PY - 2018/5/1
Y1 - 2018/5/1
N2 - 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. (C) 2018 The Authors. Published by Elsevier B.V.
AB - 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. (C) 2018 The Authors. Published by Elsevier B.V.
KW - Thoracic aortic aneurysm
KW - Aortic disease
KW - Dissection
KW - Genetics
KW - Family screening
KW - TRANSTHORACIC ECHOCARDIOGRAPHY
KW - FBN1 GENE
KW - ANEURYSMS
KW - MANAGEMENT
KW - DISSECTIONS
KW - INHERITANCE
KW - DILATATION
KW - DIMENSIONS
KW - DIAGNOSIS
KW - DILATION
U2 - 10.1016/j.ijcard.2018.01.145
DO - 10.1016/j.ijcard.2018.01.145
M3 - Article
C2 - 29452988
SN - 0167-5273
VL - 258
SP - 243
EP - 248
JO - International Journal of Cardiology
JF - International Journal of Cardiology
ER -