A new scientific paper entitled Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first degree relatives has been published! This consensus statement is co-authored by several of our HTAD-WG members including Dr Marlies Kempers (Radboud university medical center), Bart Loeys (University Hospital of Antwerp), Prof Jolien Roos-Hesselink and Dr Ingrid van de Laar (Erasmus Medical Center), and Dr Berto Bouma (Academic Medical Center). Dr. Yvonne Hilhorst-Hofstee (from Leiden University, who is having some cooperation with the HTAD WG Members) is also a co-author.
Thoracic aortic aneurysm (TAA) is an abnormal widening of an area in the aortic wall within the thoracic cavity that can be isolated or associated with a connective tissue disorder (such as Marfan syndrome). While most patients with TAA display no symptoms, diagnosis and proper management of this condition is crucial as it can, if left untreated, lead to aortic dissection, rupture or sudden death. A positive family history is reported in 20% of patients with TAA so guidelines regarding family screening and genetic evaluation of TAA patients is also very important.
These recommendations, largely based on the consensus opinion of experts, aim to provide medical guidance for all health care professionals involved in the recognition, diagnosis and treatment of TAA patients and their relatives. It is hoped that they will stimulate further national and international discussions on this topic as well as additional research and, consequently, the development of evidence-based guidelines.
Access the full article here
Int J Cardiol. 2018 May 1;258:243-248. doi: 10.1016/j.ijcard.2018.01.145. Epub 2018 Feb 7.
Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.
Verhagen JM, Kempers M, Cozijnsen L, Bouma BJ, Duijnhouwer AL, Post JG, Hilhorst-Hofstee Y, Bekkers SCAM, Kerstjens-Frederikse WS, van Brakel TJ, Lambermon E, Wessels MW, Loeys BL, Roos-Hesselink JW, van de Laar IMBH; National Working Group on BAV & TAA.